Atypical Motor Neuron Disorders

  • J. Americo M. Fernandes Filho
  • Eroboghene E. Ubogu


Amyotrophic lateral sclerosis is a progressive neurodegenerative disorder of motor neurons and their axons characterized by signs of upper and lower motor neuron dysfunction. When clinical features are restricted to either upper or lower motor neurons, limited to one or two body regions, or associated with non-motor manifestations, it is important to consider atypical motor neuron disorders. These are a group of disorders with varied etiologies that resemble amyotrophic lateral sclerosis in many respects but may possess distinct clinical, pathologic, and laboratory features. Some of these disorders are potentially reversible or have a better prognosis than amyotrophic lateral sclerosis. Recognizing these disorders early is necessary in order to initiate specific treatments when available and appropriately counsel patients particularly in the setting of genetic disorders.


Amyotrophic lateral sclerosis Atypical motor neuron disease Immune-mediated motor neuropathies multifocal motor neuropathy Kennedy disease Hirayama disease Paraneoplastic disease Polyglucosan body disease Post-poliomyelitis Post-radiation motor neuron disease 


  1. 1.
    Preston DC, Kelly JJ. Atypical motor neuron disease. In: Brown WF, Bolton CF, editors. Clinical electromyography. Stoneham: Butterworth-Heinemann; 1993. p. 451–76.Google Scholar
  2. 2.
    Shapiro BE. Atypical motor neuron disease. In: Samuels MA, Feske S, editors. Office practice of neurology. New York: Churchill Livingstone Inc; 1996. p. 484–91.Google Scholar
  3. 3.
    Pestronk A, Cornblath DR, Ilyas AA, et al. A treatable multifocal motor neuropathy with antibodies to GM1 ganglioside. Ann Neurol. 1988;24:73–8.PubMedCrossRefGoogle Scholar
  4. 4.
    Pestronk A. Invited review: motor neuropathies, motor neuron disorders, and antiglycolipid antibodies. Muscle Nerve. 1991;14:927–36.PubMedCrossRefGoogle Scholar
  5. 5.
    Pestronk A, Chaudhry V, Feldman EL, et al. Lower motor neuron syndromes defined by patterns of weakness, nerve conduction abnormalities, and high titers of antiglycolipid antibodies. Ann Neurol. 1990;27:316–26.PubMedCrossRefGoogle Scholar
  6. 6.
    Krarup C, Stewart JD, Sumner AJ, Pestronk A, Lipton SA. A syndrome of asymmetric limb weakness with motor conduction block. Neurology. 1990;40:118–27.PubMedCrossRefGoogle Scholar
  7. 7.
    Katz JS, Wolfe GI, Bryan WW, Jackson CE, Amato AA, Barohn RJ. Electrophysiologic findings in multifocal motor neuropathy. Neurology. 1997;48:700–7.PubMedCrossRefGoogle Scholar
  8. 8.
    Chaudhry V, Corse AM, Cornblath DR, Kuncl RW, Freimer ML, Griffin JW. Multifocal motor neuropathy: electrodiagnostic features. Muscle Nerve. 1994;17:198–205.PubMedCrossRefGoogle Scholar
  9. 9.
    Parry GJ, Clarke S. Multifocal acquired demyelinating neuropathy masquerading as motor neuron disease. Muscle Nerve. 1988;11:103–7.PubMedCrossRefGoogle Scholar
  10. 10.
    Pestronk A, Adams RN, Clawson L, et al. Serum antibodies to GM1 ganglioside in amyotrophic lateral sclerosis. Neurology. 1988;38:1457–61.PubMedCrossRefGoogle Scholar
  11. 11.
    Lewis RA, Sumner AJ, Brown MJ, Asbury AK. Multifocal demyelinating neuropathy with persistent conduction block. Neurology. 1982;32:958–64.PubMedCrossRefGoogle Scholar
  12. 12.
    Vlam L, van der Pol W-L, Cats EA, et al. Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies. Nat Rev Neurol. 2012;8:48–58.CrossRefGoogle Scholar
  13. 13.
    Nobile-Orazio E, Gallia F, Terenghi F, Allaria S, Giannotta C, Carpo M. How useful are anti-neural IgM antibodies in the diagnosis of chronic immune-mediated neuropathies? J Neurol Sci. 2008;266:156–63.PubMedCrossRefGoogle Scholar
  14. 14.
    Pestronk A, Choksi R. Multifocal motor neuropathy. Serum IgM anti-GM1 ganglioside antibodies in most patients detected using covalent linkage of GM1 to ELISA plates. Neurology. 1997;49:1289–92.PubMedCrossRefGoogle Scholar
  15. 15.
    Pestronk A, Chuquilin M, Choksi R. Motor neuropathies and serum IgM binding to NS6S heparin disaccharide or GM1 ganglioside. J Neurol Neurosurg Psychiatry. 2010;81:726–30.PubMedCrossRefGoogle Scholar
  16. 16.
    Bosch X, Saiz A, Ramos-Casals M, et al. Monoclonal antibody therapy-associated neurological disorders. Nat Rev Neurol. 2011;7:165–72.PubMedCrossRefGoogle Scholar
  17. 17.
    Cats EA, van der Pol W-L, Pipers S, et al. Correlates of outcome and response to IVIg in 88 patients with multifocal motor neuropathy. Neurology. 2010;75:818–25.PubMedCrossRefGoogle Scholar
  18. 18.
    Taylor BV, Wright RA, Harper CM, Dyck PD. Natural history of 46 patients with multifocal motor neuropathy with conduction block. Muscle Nerve. 2000;23:900–8.PubMedCrossRefGoogle Scholar
  19. 19.
    Slee M, Selvan A, Donaghy M. Multifocal motor neuropathy: the diagnoses spectrum and response to treatment. Neurology. 2007;69:1680–7.PubMedCrossRefGoogle Scholar
  20. 20.
    Cats EA, Jacobs BC, Yuki N, et al. Multifocal motor neuropathy: association of anti-GM1 IgM antibodies with clinical features. Neurology. 2010;75:1961–7.PubMedCrossRefGoogle Scholar
  21. 21.
    Bouche P, Moulonguet A, Younes-Chennoufi AB, et al. Multifocal motor neuropathy with conduction block: a study of 24 patients. J Neurol Neurosurg Psychiatry. 1995;59:38–44.PubMedCrossRefGoogle Scholar
  22. 22.
    Kornberg AJ, Pestronk A. Chronic motor neuropathies and lower motor neurone syndromes. Baillieres Clin Neurol. 1995;4:427–41.PubMedGoogle Scholar
  23. 23.
    Parry GJ, Sumner AJ. Multifocal motor neuropathy. Neurol Clin. 1992;10:671–84.PubMedGoogle Scholar
  24. 24.
    Van den Bergh P, Logigian EL, Kelly Jr JJ. Motor neuropathy with multifocal conduction blocks. Muscle Nerve. 1989;12:26–31.PubMedCrossRefGoogle Scholar
  25. 25.
    Nobile-Orazio E. Multifocal motor neuropathy. J Neurol Neurosurg Psychiatry. 1996;60:599–603.PubMedCrossRefGoogle Scholar
  26. 26.
    Roth G, Rohr J, Magistris MR, Ochsner F. Motor neuropathy with proximal multifocal persistent conduction block, fasciculations and myokymia. Evolution to tetraplegia. Eur Neurol. 1986;25:416–23.PubMedCrossRefGoogle Scholar
  27. 27.
    Steck AJ, Adams D. Motor neuron syndromes and monoclonal IgM antibodies to gangliosides. Adv Neurol. 1991;56:421–5.PubMedGoogle Scholar
  28. 28.
    Beydoun SR, Copeland D. Bilateral phrenic neuropathy as a presenting feature of multifocal motor neuropathy with conduction block. Muscle Nerve. 2000;23:556–9.PubMedCrossRefGoogle Scholar
  29. 29.
    Boonyapisit K, Katirji B. Multifocal motor neuropathy presenting with chronic respiratory failure. Muscle Nerve. 2000;23:1887–90.PubMedCrossRefGoogle Scholar
  30. 30.
    Kaji R, Shibasaki H, Kimura J. Multifocal demyelinating motor neuropathy: cranial nerve involvement and immunoglobulin therapy. Neurology. 1992;42:506–9.PubMedCrossRefGoogle Scholar
  31. 31.
    Pringle CE, Belden J, Veitch JE, Brown WF. Multifocal motor neuropathy presenting as ophthalmoplegia. Muscle Nerve. 1997;20:347–51.PubMedCrossRefGoogle Scholar
  32. 32.
    Sadiq SA, Thomas FP, Kilidireas K, et al. The spectrum of neurologic disease associated with anti-GM1 antibodies. Neurology. 1990;40:1067–72.PubMedCrossRefGoogle Scholar
  33. 33.
    Kornberg AJ, Pestronk A. The clinical and diagnostic role of anti-GM1 antibody testing. Muscle Nerve. 1994;17:100–4.PubMedCrossRefGoogle Scholar
  34. 34.
    Kornberg AJ, Pestronk A, Bieser K, et al. The clinical correlates of high-titer IgG anti-GM1 antibodies. Ann Neurol. 1994;35:234–7.PubMedCrossRefGoogle Scholar
  35. 35.
    Kinsella LJ, Lange DJ, Trojaborg W, Sadiq SA, Younger DS, Latov N. Clinical and electrophysiologic correlates of elevated anti-GM1 antibody titers. Neurology. 1994;44:1278–82.PubMedCrossRefGoogle Scholar
  36. 36.
    Lange DJ, Trojaborg W, Latov N, et al. Multifocal motor neuropathy with conduction block: is it a distinct clinical entity? Neurology. 1992;42:497–505.PubMedCrossRefGoogle Scholar
  37. 37.
    Echaniz-Laguna A, Dietemann JL. Seeing the blocks: MRI of the brachial plexus in multifocal motor neuropathy. J Neurol Neurosurg Psychiatry. 2011;82:728.PubMedCrossRefGoogle Scholar
  38. 38.
    Van Es HW, van den Berg LH, Franssen H, et al. Magnetic resonance imaging of the brachial plexus in patients with multifocal motor neuropathy. Neurology. 1997;48:1218–24.PubMedCrossRefGoogle Scholar
  39. 39.
    Beekman R, van den Berg LH, Franssen H, Visser LH, van Asseldonk JHT, Wokke JHJ. Ultrasonography shows extensive nerve enlargements in multifocal motor neuropathy. Neurology. 2005;65:305–7.PubMedCrossRefGoogle Scholar
  40. 40.
    Van den Berg LH, Kerkhoff H, Oey PL, et al. Treatment of multifocal motor neuropathy with high dose intravenous immunoglobulins: a double blind, placebo controlled study. J Neurol Neurosurg Psychiatry. 1995;59:248–52.PubMedCrossRefGoogle Scholar
  41. 41.
    Van den Berg LH, Franssen H, Wokke JH. Improvement of multifocal motor neuropathy during long-term weekly treatment with human immunoglobulin. Neurology. 1995;45:987–8.PubMedCrossRefGoogle Scholar
  42. 42.
    Federico P, Zochodne DW, Hahn AF, Brown WF, Feasby TE. Multifocal motor neuropathy improved by IVIg. Neurology. 2000;55:1256–62.PubMedCrossRefGoogle Scholar
  43. 43.
    Azulay J-P, BLin O, Pouget J. Intravenous immunoglobulin treatment in patients with motor neuron syndromes associated with anti-GM1 antibodies: a double-blind, placebo-controlled study. Neurology. 1994;44:429–32.PubMedCrossRefGoogle Scholar
  44. 44.
    Leger J-M, Chassande B, Musset L, Meininger V, Bouche P, Baumann N. Intravenous immunoglobulin theraphy in multifocal motor neuropathy: a double-blind, placebo-controlled study. Brain. 2001;124:145–53.PubMedCrossRefGoogle Scholar
  45. 45.
    Chaudhry V, Corse AM, Cornblath DR, et al. Multifocal motor neuropathy: response to human immune globulin. Ann Neurol. 1993;33:237–42.PubMedCrossRefGoogle Scholar
  46. 46.
    Azulay JP, Rihet P, Pouget J, et al. Long term follow up of multifocal motor neuropathy with conduction block under treatment. J Neurol Neurosurg Psychiatry. 1997;62:391–4.PubMedCrossRefGoogle Scholar
  47. 47.
    Biessels GJ, Franssen H, van den Berg LH, et al. Multifocal motor neuropathy. J Neurol. 1997;244:143–52.PubMedCrossRefGoogle Scholar
  48. 48.
    Leger JM, Younes-Chennoufi AB, Chassande B, et al. Human immunoglobulin treatment of multifocal motor neuropathy and polyneuropathy associated with monoclonal gammopathy. J Neurol Neurosurg Psychiatry. 1994;57(Suppl):46–9.PubMedCrossRefGoogle Scholar
  49. 49.
    Jaspert A, Claus D, Grehl H, Neundorfer B. Multifocal motor neuropathy: clinical and electrophysiological findings. J Neurol. 1996;243:684–92.PubMedCrossRefGoogle Scholar
  50. 50.
    Meucci N, Cappellari A, Barbieri S, Scarlato G, Nobile-Orazio E. Long term effect of intravenous immunoglobulins and oral cyclophosphamide in multifocal motor neuropathy. J Neurol Neurosurg Psychiatry. 1997;63:765–9.PubMedCrossRefGoogle Scholar
  51. 51.
    Nobile-Orazio E, Meucci N, Barbieri S, Carpo M, Scarlato G. High-dose intravenous immunoglobulin therapy in multifocal motor neuropathy. Neurology. 1993;43:537–44.PubMedCrossRefGoogle Scholar
  52. 52.
    Van den Berg LH, Franssen H, Wokke JH. The long-term effect of intravenous immunoglobulin treatment in multifocal motor neuropathy. Brain. 1998;121:421–8.PubMedCrossRefGoogle Scholar
  53. 53.
    Leger J-M, Viala K, Cancalon F, et al. Intravenous immunoglobulin as short- and long-term therapy of multifocal motor neuropathy: a retrospective study of response to IVIG and of its predictive criteria in 40 patients. J Neurol Neurosurg Psychiatry. 2008;79:93–6.PubMedCrossRefGoogle Scholar
  54. 54.
    Pestronk A. Multifocal motor neuropathy: diagnosis and treatment. Neurology. 1998;51:S22–4.PubMedCrossRefGoogle Scholar
  55. 55.
    Stangel M, Toyka KV, Gold R. Mechanisms of high-dose intravenous immunoglobulins in demyelinating diseases. Arch Neurol. 1999;56:661–3.PubMedCrossRefGoogle Scholar
  56. 56.
    Dalakas MC. Mechanism of action of intravenous immunoglobulin and therapeutic considerations in the treatment of autoimmune neurologic diseases. Neurology. 1998;51:S2–8.PubMedCrossRefGoogle Scholar
  57. 57.
    Dalakas MC. Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines. Muscle Nerve. 1999;22:1479–97.PubMedCrossRefGoogle Scholar
  58. 58.
    Elliott JL, Pestronk A. Progression of multifocal motor neuropathy during apparently successful treatment with human immunoglobulin. Neurology. 1994;44:967–8.PubMedCrossRefGoogle Scholar
  59. 59.
    Lopate G, Pestronk A. Inflammatory demyelinating neuropathies. Curr Treat Options Neurol. 2011;13:131–42.PubMedCrossRefGoogle Scholar
  60. 60.
    Feldman EL, Bromberg MB, Albers JW, Pestronk A. Immuno­suppressive treatment in multifocal motor neuropathy. Ann Neurol. 1991;30:397–401.PubMedCrossRefGoogle Scholar
  61. 61.
    Van den Berg LH, Lokhorst H, Wokke JH. Pulsed high-dose dexamethasone is not effective in patients with multifocal motor neuropathy. Neurology. 1997;48:1135.PubMedCrossRefGoogle Scholar
  62. 62.
    Pestronk A, Florence J, Miller T, Choksi R, Al-Lozi MT, Levine TD. Treatment of IgM antibody associated polyneuropathies using rituximab. J Neurol Neurosurg Psychiatry. 2003;74:485–9.PubMedCrossRefGoogle Scholar
  63. 63.
    Chaudhry V, Cornblath DR. An open-label trial of rituximab (Rituxan®) in multifocal motor neuropathy. J Peripher Nerv Syst. 2010;15:196–201.PubMedCrossRefGoogle Scholar
  64. 64.
    Delmont E, Azulay JP, Giorgi R, et al. Multifocal motor neuropathy with and without conduction block: a single entity? Neurology. 2006;67:592–6.PubMedCrossRefGoogle Scholar
  65. 65.
    Nodera H, Bostock H, Zumi Y. Activity-dependent conduction block in multifocal motor neuropathy: magnetic fatigue test. Neurology. 2006;67:280–7.PubMedCrossRefGoogle Scholar
  66. 66.
    Pestronk A, Lopate G, Kornberg AJ, et al. Distal lower motor neuron syndrome with high-titer serum IgM anti-GM1 antibodies: improvement following immunotherapy with monthly plasma exchange and intravenous cyclophosphamide. Neurology. 1994;44:2027–31.PubMedGoogle Scholar
  67. 67.
    Ellis CM, Leary S, Payan J, et al. Use of human intravenous immunoglobulin in lower motor neuron syndromes. J Neurol Neurosurg Psychiatry. 1999;67:15–9.PubMedCrossRefGoogle Scholar
  68. 68.
    Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex linked recessive trait. Neurology. 1968;18:671–80.PubMedCrossRefGoogle Scholar
  69. 69.
    Papapetropoulos T, Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?). Eur Neurol. 1981;20:485–8.PubMedCrossRefGoogle Scholar
  70. 70.
    La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352:77–9.PubMedCrossRefGoogle Scholar
  71. 71.
    Fischbeck KH, Ionasescu V, Ritter AW, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 1986;36:1595–8.PubMedCrossRefGoogle Scholar
  72. 72.
    Fischbeck KH, Souders D, La Spada A. A candidate gene for X-linked spinal muscular atrophy. Adv Neurol. 1991;56:209–13.PubMedGoogle Scholar
  73. 73.
    Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy’s disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology. 1993;43:791–4.PubMedCrossRefGoogle Scholar
  74. 74.
    Igarashi S, Tanno Y, Onodera O, et al. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology. 1992;42:2300–2.PubMedCrossRefGoogle Scholar
  75. 75.
    La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of trinucleotide repeat in X inked spinal and bulbar muscular atrophy. Nat Genet. 1992;2:301–4.PubMedCrossRefGoogle Scholar
  76. 76.
    Abel A, Taye AA, Fischbeck KH, Merry DE. Truncated androgen receptor gene with an expanded CAG repeat causes phenotypic changes in transgenic mice. Am J Hum Genet. 1998;63:A319.Google Scholar
  77. 77.
    Ordway JM, Tallaksen-Greene S, et al. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell. 1997;91:753–63.PubMedCrossRefGoogle Scholar
  78. 78.
    Li M, Miwa S, Kobayashi Y, et al. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol. 1998;44:249–54.PubMedCrossRefGoogle Scholar
  79. 79.
    Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle Nerve. 2000;23:843–50.PubMedCrossRefGoogle Scholar
  80. 80.
    Finsterer J. Perspectives of Kennedy’s disease. J Neurol Sci. 2010;298:1–10.PubMedCrossRefGoogle Scholar
  81. 81.
    Puls I, Oh SJ, Sumner CJ, et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol. 2005;57:687–94.PubMedCrossRefGoogle Scholar
  82. 82.
    Atsuta N, Watanabe H, Ito M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006;129:1446–55.PubMedCrossRefGoogle Scholar
  83. 83.
    Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry. 1982;45:1012–9.PubMedCrossRefGoogle Scholar
  84. 84.
    Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait [classical article]. Neurology. 1998;50:583.Google Scholar
  85. 85.
    Olney RK, Aminoff MJ, So YT. Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neurology. 1991;41:823–8.PubMedCrossRefGoogle Scholar
  86. 86.
    Trojaborg W, Wulff CH. X-linked recessive bulbospinal neuronopathy (Kennedy’s syndrome): a neurophysiological study. Acta Neurol Scand. 1994;89:214–9.PubMedCrossRefGoogle Scholar
  87. 87.
    Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain. 1989;112:209–32.PubMedCrossRefGoogle Scholar
  88. 88.
    Ertekin C, Sirin H. X-linked bulbospinal muscular atrophy (Kennedy’s syndrome): a report of three cases. Acta Neurol Scand. 1993;87:56–61.PubMedCrossRefGoogle Scholar
  89. 89.
    Meriggioli MN, Rowin J, Sanders DB. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve. 1999;22:1693–7.PubMedCrossRefGoogle Scholar
  90. 90.
    Stefanis C, Papapetropoulos T, Scarpalezos S, Lygidakis G, Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset. A separate type of motor neuron disease? J Neurol Sci. 1975;24:493–03.PubMedCrossRefGoogle Scholar
  91. 91.
    Ringel SP, Lava NS, Treihaft MM, Lubs ML, Lubs HA. Late-onset X-linked recessive spinal and bulbar muscular atrophy. Muscle Nerve. 1978;1:297–307.PubMedCrossRefGoogle Scholar
  92. 92.
    Lee JH, Shin JH, Park KP, et al. Phenotypic variability in Kennedy’s disease: implication of the early diagnostic features. Acta Neurol Scand. 2005;112:57–63.PubMedCrossRefGoogle Scholar
  93. 93.
    Warner CL, Servidei S, Lange DJ, Miller E, Lovelace RE, Rowland LP. X-linked spinal muscular atrophy (Kennedy’s syndrome). A kindred with hypobetalipoproteinemia. Arch Neurol. 1990;47:1117–20.PubMedCrossRefGoogle Scholar
  94. 94.
    Baloh RH, Rackwicz W, Gardner R, Pestronk A. Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes. Muscle Nerve. 2007;36:107–10.PubMedCrossRefGoogle Scholar
  95. 95.
    Neuromuscular disease center. Accessed 5 May 2012.
  96. 96.
    Hirayama K, Tomonaga M, Kitano K, Yamada T, Kojima S, Arai K. Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. J Neurol Neurosurg Psychiatry. 1987;50:285–90.PubMedCrossRefGoogle Scholar
  97. 97.
    Hirayama K, Toyokura Y, Tsubaki T. Juvenile muscular atrophy of unilateral upper extremity; a new clinical entity. Psychiatr Neurol Jpn. 1959;61:2190–7.Google Scholar
  98. 98.
    Sobue I, Ando K, Nishigaki S. Localized regional muscular atrophy. Brain Nerve. 1963;15:1021–7.PubMedGoogle Scholar
  99. 99.
    Hirabuki N, Mitomo M, Miura T, Hashimoto T, Kawai R, Kozuka T. Computed tomographic myelography characteristics of spinal cord atrophy in juvenile muscular atrophy of the upper extremity. Eur J Radiol. 1991;13:215–9.PubMedCrossRefGoogle Scholar
  100. 100.
    Hirayama K, Tsubaki T, Toyokura Y. Juvenile muscular atrophy of unilateral upper extremity. Neurology. 1963;13:373–80.PubMedCrossRefGoogle Scholar
  101. 101.
    Hirayama K. Juvenile non-progressive muscular atrophy localized in the hand and forearm: observations in 38 cases. Clin Neurol. 1972;12:313–24.Google Scholar
  102. 102.
    Gourie-Devi M, Suresh TG, Shankar SK. Monomelic amyotrophy. Arch Neurol. 1984;41:388–94.PubMedCrossRefGoogle Scholar
  103. 103.
    Chan YW, Kay R, Schwartz MS. Juvenile distal spinal muscular atrophy of upper extremities in Chinese males: a single fibre electromyographic study of arms and legs. J Neurol Neurosurg Psychiatry. 1991;54:165–6.PubMedCrossRefGoogle Scholar
  104. 104.
    Phanthumchinda K. X-linked recessive bulbospinal neuronopathy. J Med Assoc Thai. 1992;75:369–73.PubMedGoogle Scholar
  105. 105.
    Paradiso G. Monomelic amyotrophy following trauma and immobilization in children. Muscle Nerve. 1997;20:425–30.PubMedCrossRefGoogle Scholar
  106. 106.
    Breig A, Turnbull I, Hassler O. Effects of mechanical stresses on the spinal cord in cervical spondylosis. A study on fresh cadaver material. J Neurosurg. 1966;25:45–56.PubMedCrossRefGoogle Scholar
  107. 107.
    Pradhan S. Bilaterally symmetric form of Hirayama disease. Neurology. 2009;72:2083–9.PubMedCrossRefGoogle Scholar
  108. 108.
    Sullivan DJ O, McLeod JG. Distal chronic spinal muscular atrophy involving the hands. J Neurol Neurosurg Psychiatry. 1978;41:653–8.CrossRefGoogle Scholar
  109. 109.
    Donofrio PD. AAEM case report #28: monomelic amyotrophy. Muscle Nerve. 1994;17:1129–34.PubMedCrossRefGoogle Scholar
  110. 110.
    Gouri-Devi M, Suresh TG, Shankar SK. Benign focal amyotrophy or monomelic amyotrophy. Arch Neurol. 1986;43:1223.PubMedCrossRefGoogle Scholar
  111. 111.
    Peiris JB, Seneviratne KN, Wickremasinghe HR, Gunatilake SB, Gamage R. Non familial juvenile distal spinal muscular atrophy of upper extremity. J Neurol Neurosurg Psychiatry. 1989;52:314–9.PubMedCrossRefGoogle Scholar
  112. 112.
    Sobue I, Saito N, Iida M, Ando K. Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann Neurol. 1978;3:429–32.PubMedCrossRefGoogle Scholar
  113. 113.
    Barontini F, Maurri S, Cincotta M. Benign focal amyotrophy: a longitudinal study (13–15 years) in 3 cases. Riv Neurol. 1991;61:233–41.PubMedGoogle Scholar
  114. 114.
    Compernolle T. A case of juvenile muscular atrophy confined to one upper limb. Eur Neurol. 1973;10:237–42.PubMedCrossRefGoogle Scholar
  115. 115.
    de Visser M, de Ongerboer Visser BW, Verbeeten Jr B. Electromyographic and computed tomographic findings in five patients with monomelic spinal muscular atrophy. Eur Neurol. 1988;28:135–8.PubMedCrossRefGoogle Scholar
  116. 116.
    Tan CT. Juvenile muscular atrophy of distal upper extremities. J Neurol Neurosurg Psychiatry. 1985;48:285–6.PubMedCrossRefGoogle Scholar
  117. 117.
    Uncini A, Servidei S, Delli Pizzi C, et al. Benign monomelic amyotrophy of lower limb: report of three cases. Acta Neurol Scand. 1992;85:397–400.PubMedCrossRefGoogle Scholar
  118. 118.
    Riggs JE, Schochet Jr SS, Gutmann L. Benign focal amyotrophy. Variant of chronic spinal muscular atrophy. Arch Neurol. 1984;41:678–9.PubMedCrossRefGoogle Scholar
  119. 119.
    Pilgaard S. Unilateral juvenile muscular atrophy of upper limbs. Acta Orthop Scand. 1968;39:327–31.PubMedCrossRefGoogle Scholar
  120. 120.
    Biondi A, Dormont D, Weitzner Jr I, Bouche P, Chaine P, Bories J. MR Imaging of the cervical cord in juvenile amyotrophy of distal upper extremity. AJNR Am J Neuroradiol. 1989;10:263–8.PubMedGoogle Scholar
  121. 121.
    Metcalf Jr JC, Wood JB, Bertorini TE. Benign focal amyotrophy: metrizamide CT evidence of cord atrophy. Case report. Muscle Nerve. 1987;10:338–45.PubMedCrossRefGoogle Scholar
  122. 122.
    Mukai E, Sobue I, Muto T, Takahashi A, Goto S. Abnormal radiological findings in juvenile-type distal and segmental muscular atrophy of the upper extremities. Rinsho Shinkeigaku. 1985;25:620–6.PubMedGoogle Scholar
  123. 123.
    Mukai E, Matsuo T, Muto T, Takahashi A, Sobue I. Magnetic resonance imaging of juvenile-type distal and segmental muscular atrophy of the upper extremities. Rinsho Shinkeigaku. 1987;27:99–107.PubMedGoogle Scholar
  124. 124.
    Mulder DW. The clinical syndrome of amyotrophic lateral sclerosis. Mayo Clin Proc. 1957;32:427–36.Google Scholar
  125. 125.
    Hu MT, Ellis CM, Al-Chalabi A, Leigh PN, Shaw CE. Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 1998;65:950–1.PubMedCrossRefGoogle Scholar
  126. 126.
    Wijesekera LC, Mathers S, Talman P, et al. Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology. 2009;72:1087–94.PubMedCrossRefGoogle Scholar
  127. 127.
    Katz JS, Wolfe GI, Andersson PB, et al. Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder. Neurology. 1999;53:1071–6.PubMedCrossRefGoogle Scholar
  128. 128.
    Sasaki S, Iwata M. Atypical form of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 1999;66:581–5.PubMedCrossRefGoogle Scholar
  129. 129.
    Bosch AM, Abeling NGGM, IJIst L. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011;34:159–64.PubMedCrossRefGoogle Scholar
  130. 130.
    Green P, Wiseman M, Crow YJ, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C2)orf54. Am J Hum Genet. 2010;86:485–9.PubMedCrossRefGoogle Scholar
  131. 131.
    Fink JK. The hereditary spastic paraplegias. Arch Neurol. 2003;60:1045–9.PubMedCrossRefGoogle Scholar
  132. 132.
    Fink JK. Hereditary spastic paraplegia. In: Rimoin D, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin’s principles and practice of medical genetics. Philadelphia: Churchill Livingstone Elsevier; 2007. p. 2771–801.Google Scholar
  133. 133.
    Fink JK. The hereditary spastic paraplegias. In: Rosenberg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ, editors. The molecular and genetic basis of neurologic and psychiatric disease. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 383–92.Google Scholar
  134. 134.
    Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenic mechanisms. Lancet Neurol. 2008;7:1127–38.PubMedCrossRefGoogle Scholar
  135. 135.
    de Bot ST, van den Elzen RTM, Mensenkamp AR, et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry. 2010;81:1073–8.PubMedCrossRefGoogle Scholar
  136. 136.
    McDermott CJ, Burness CE, Kirby J, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology. 2006;67:45–51.PubMedCrossRefGoogle Scholar
  137. 137.
    Proukakis C, Moore D, Labrun R, Wood NW, Houlden H. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J Neurol Sci. 2011;306:62–5.PubMedCrossRefGoogle Scholar
  138. 138.
    Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6:65–76.PubMedCrossRefGoogle Scholar
  139. 139.
    Brugman F, Scheffer H, Wokke JHJ, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology. 2008;71:1500–5.PubMedCrossRefGoogle Scholar
  140. 140.
    Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131:772–84.PubMedCrossRefGoogle Scholar
  141. 141.
    Rubin M, Karpati G, Wolfe LS, Carpenter S, Klavins MH, Mahuran DJ. Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency. J Neurol Sci. 1988;87:103–19.PubMedCrossRefGoogle Scholar
  142. 142.
    Fernandes Filho JA, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004;61:1466–8.PubMedCrossRefGoogle Scholar
  143. 143.
    Suzuki Y, Suzuki K. Partial deficiency of hexosaminidase component a in juvenile gm2-gangliosidosis. Neurology. 1970;20:848–51.PubMedCrossRefGoogle Scholar
  144. 144.
    Suzuki K, Rapin I, Suzuki Y, Ishii N. Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. Neurology. 1970;20:190–204.PubMedCrossRefGoogle Scholar
  145. 145.
    Brett EM, Ellis RB, Haas L. Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients. Arch Dis Child. 1973;48:775–85.PubMedCrossRefGoogle Scholar
  146. 146.
    Navon R, Padeh B, Adam A. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease. Am J Hum Genet. 1973;25:287–93.PubMedGoogle Scholar
  147. 147.
    Navon R, Brand N, Sandbank U. Adult GM2 gangliosidosis: neurologic and biochemical findings in an apparently new type (abstract). Neurology. 1980;30:449–50.Google Scholar
  148. 148.
    Argov Z, Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol. 1984;16:14–20.PubMedCrossRefGoogle Scholar
  149. 149.
    Conzelmann E, Kytzia HJ, Navon R, Sandhoff K. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level. Am J Hum Genet. 1983;35:900–13.PubMedGoogle Scholar
  150. 150.
    Navon R, Geiger B, Yoseph YB, Rattazzi MC. Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme. Am J Hum Genet. 1976;28:339–49.PubMedGoogle Scholar
  151. 151.
    Cashman NR, Antel JP, Hancock LW, et al. N-acetyl-­beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study. Ann Neurol. 1986;19:568–72.PubMedCrossRefGoogle Scholar
  152. 152.
    Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet. 1986;24:179–96.PubMedCrossRefGoogle Scholar
  153. 153.
    Navon R. Molecular and clinical heterogeneity of adult GM2 gangliosidosis. Dev Neurosci. 1991;13:295–8.PubMedCrossRefGoogle Scholar
  154. 154.
    Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, Waespe W. Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). J Neurol Neurosurg Psychiatry. 1995;59:520–3.PubMedCrossRefGoogle Scholar
  155. 155.
    Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 2008;38:1012–5.PubMedCrossRefGoogle Scholar
  156. 156.
    Barnes D, Misra VP, Young EP, Thomas PK, Harding AE. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. J Neurol Neurosurg Psychiatry. 1991;54:1112–3.PubMedCrossRefGoogle Scholar
  157. 157.
    Rapin I, Suzuki K, Valsamis MP. Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol. 1976;33:120–30.PubMedCrossRefGoogle Scholar
  158. 158.
    Navon R, Argov Z, Brand N, Sandbank U. Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. Neurology. 1981;31:1397–401.PubMedCrossRefGoogle Scholar
  159. 159.
    Johnson WG. The clinical spectrum of hexosaminidase deficiency diseases. Neurology. 1981;31:1453–6.PubMedCrossRefGoogle Scholar
  160. 160.
    Johnson WG, Wigger HJ, Karp HR, Glaubiger LM, Rowland LP. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. Ann Neurol. 1982;11:11–6.PubMedCrossRefGoogle Scholar
  161. 161.
    Johnson WG. Motor neuron diseases resulting from hexosaminidase deficiency. Semin Neurol. 1993;13:369–74.PubMedCrossRefGoogle Scholar
  162. 162.
    Johnson WG, Chutorian A, Miranda A. A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies. Neurology. 1977;27:1012–8.PubMedCrossRefGoogle Scholar
  163. 163.
    Oonk JG, van der Helm HJ, Martin JJ. Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. Neurology. 1979;29:380–4.PubMedCrossRefGoogle Scholar
  164. 164.
    Parnes S, Karpati G, Carpenter S, Kin NM, Wolfe LS, Suranyi L. Hexosaminidase-A deficiency presenting as atypical juvenile-­onset spinal muscular atrophy. Arch Neurol. 1985;42:1176–80.PubMedCrossRefGoogle Scholar
  165. 165.
    Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology. 1981;31:787–98.PubMedCrossRefGoogle Scholar
  166. 166.
    Harding AE, Young EP, Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987;50:687–90.PubMedCrossRefGoogle Scholar
  167. 167.
    Karni A, Navon R, Sadeh M. Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset. Ann Neurol. 1988;24:451–3.PubMedCrossRefGoogle Scholar
  168. 168.
    Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi GC. The clinical aspects of adult hexosaminidase deficiencies. Dev Neurosci. 1991;13:280–7.PubMedCrossRefGoogle Scholar
  169. 169.
    Barbeau A, Plasse L, Cloutier T, Paris S, Roy M. Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. Can J Neurol Sci. 1984;11:601–6.PubMedGoogle Scholar
  170. 170.
    Streifler J, Golomb M, Gadoth N. Psychiatric features of adult GM2 gangliosidosis. Br J Psychiatry. 1989;155:410–3.PubMedGoogle Scholar
  171. 171.
    Rosebush PI, MacQueen GM, Clarke JTR, Callahan JW, Strasberg PM, Mazurek MF. Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues. J Clin Psychiatry. 1995;56:347–53.PubMedGoogle Scholar
  172. 172.
    Renshaw PF, Stern TA, Welch C, Schouten R, Kolodny EH. Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis. Ann Neurol. 1992;31:342–4.PubMedCrossRefGoogle Scholar
  173. 173.
    Lullman H, Lullman-Rauch R, Wasserman O. Lipidosis induced by amphiphilic cationic drugs. Biochem Pharmacol. 1978;27:1103–8.CrossRefGoogle Scholar
  174. 174.
    Mitsumoto H, Sliman RJ, Schafer IA, et al. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol. 1985;17:378–85.PubMedCrossRefGoogle Scholar
  175. 175.
    Meek D, Wolfe LS, Andermann E, Andermann F. Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis. Ann Neurol. 1984;15:348–52.PubMedCrossRefGoogle Scholar
  176. 176.
    Hardie RJ, Young EP, Morgan-Hughes JA. Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry. 1988;51:446–7.PubMedCrossRefGoogle Scholar
  177. 177.
    Brown CA, Mahuran DJ. Beta hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha subunit missense mutation associated with the adult form of Tay-Sachs disease. Am J Hum Genet. 1993;5:497–508.Google Scholar
  178. 178.
    Navon R, Sandbank U, Frisch A, Baram D, Adam A. Adult-onset GM2 gangliosidosis diagnosed in a fetus. Prenat Diagn. 1986;6:169–76.PubMedCrossRefGoogle Scholar
  179. 179.
    Shapiro BE, Hatters-Friedman S, Fernandes Filho JA, Anthony K, Natowicz MR. Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment. Neurology. 2006;67:875–7.PubMedCrossRefGoogle Scholar
  180. 180.
    Hammans SR. The inherited ataxias and the new genetics. J Neurol Neurosurg Psychiatry. 1996;61:327–32.PubMedCrossRefGoogle Scholar
  181. 181.
    Rosenberg RN, Paulson HL. The inherited ataxias. In: Rosenberg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ, editors. The molecular and genetic basis of neurologic and psychiatric disease. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 358–77.Google Scholar
  182. 182.
    Robitaille Y, Carpenter S, Karpati G, Dimauro S. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes. A report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora’s disease and normal aging. Brain. 1983;103:315–36.CrossRefGoogle Scholar
  183. 183.
    Peress NS, Dimauro S, Roxburg V. Adult polysaccharidosis. Clinicopathological, ultrastructural and biochemical features. Arch Neurol. 1979;36:840–5.PubMedCrossRefGoogle Scholar
  184. 184.
    Bruno C, Sevedei S, Shanske S, et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol. 1993;33:88–93.PubMedCrossRefGoogle Scholar
  185. 185.
    Lossos A, Meiner Z, Barash V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen branching enzyme gene. Ann Neurol. 1998;44:867–72.PubMedCrossRefGoogle Scholar
  186. 186.
    Ubogu EE, Hong SKT, Akman HO, et al. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve. 2005;32:675–81.PubMedCrossRefGoogle Scholar
  187. 187.
    Ziemssen F, Sindern E, Schroder JM, et al. Novel mutations in the glycogen branching enzyme gene in adult polyglucosan body disease. Ann Neurol. 2000;47:536–40.PubMedCrossRefGoogle Scholar
  188. 188.
    Lossos A, Barash V, Soffer D, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol. 1991;30:655–62.PubMedCrossRefGoogle Scholar
  189. 189.
    Cafferty MS, Lovelace RE, Hays AP, Servidei S, Dimauro S, Rowland LP. Polyglucosan body disease. Muscle Nerve. 1991;14:102–7.PubMedCrossRefGoogle Scholar
  190. 190.
    Komore O, Ichikaa K, Tsutsumi A, Himaya K, Fujioka A. Intra axonal polysaccharide deposits in the peripheral nerve seen in adult polysaccharide storage myopathy. Acta neuropathol. 1985;65:300–4.CrossRefGoogle Scholar
  191. 191.
    Steyaert A, Cisse S, Merhi Y, et al. Purification and polypeptide composition of corpora amylacea from aged human brain. J Neurosci Methods. 1990;31:59–64.PubMedCrossRefGoogle Scholar
  192. 192.
    Gray F, Gherardi R, Marshall A, Janota I, Poirier J. Adult polyglucosan body disease. J Neuropathol Exp Neurol. 1988;47:459–74.PubMedCrossRefGoogle Scholar
  193. 193.
    Vos AJM, Joosten EMG, Gabreels-Festen AAWM. Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. Ann Neurol. 1983;12:440–4.CrossRefGoogle Scholar
  194. 194.
    Rifai Z, Klitzke M, Tawil R, et al. Dementia of adult polyglucosan body disease: evidence of cortical and subcortical dysfunction. Arch Neurol. 1994;51:90–4.PubMedCrossRefGoogle Scholar
  195. 195.
    McDonald TD, Faust PL, Bruno C, Dimauro S, Goldman JE. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology. 1993;43:785–90.PubMedCrossRefGoogle Scholar
  196. 196.
    Suzuki K, David E, Kutschman B. Presenile dementia with Lafora like intraneuronal inclusions. Arch Neurol. 1971;25:69–79.PubMedCrossRefGoogle Scholar
  197. 197.
    Stam FC, Wigboldus JM, Bots GT. Presenile dementia: a form of Lafora disease. J Am Geriatr Soc. 1980;28:237–40.PubMedGoogle Scholar
  198. 198.
    Busard HLSM, Gabreels-Festen AAWM, Renier WO, et al. Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol. 1991;29:448–51.PubMedCrossRefGoogle Scholar
  199. 199.
    Sirdofsky MD, Hawley RJ, Manz H. Progressive motor neuron disease associated with electrical injury. Muscle Nerve. 1991;14:977–80.PubMedCrossRefGoogle Scholar
  200. 200.
    Craig SR. When lightning strikes. Pathophysiology and treatment of lightning injuries. Postgrad Med. 1986;79(109–12):121–4.Google Scholar
  201. 201.
    Levine NS, Atkins A, McKeel Jr DW, Peck SD, Pruitt Jr BA. Spinal cord injury following electrical accidents: case reports. J Trauma. 1975;15:459–63.PubMedCrossRefGoogle Scholar
  202. 202.
    Petty PG, Parkin G. Electrical injury to the central nervous ­system. Neurosurgery. 1986;19:282–4.PubMedCrossRefGoogle Scholar
  203. 203.
    Sharma M, Smith A. Paraplegia as a result of lightning injury. Br Med J. 1978;2:1464–5.PubMedCrossRefGoogle Scholar
  204. 204.
    Deapen DM, Henderson BE. A case–control study of amyotrophic lateral sclerosis. Am J Epidemiol. 1986;123:790–9.PubMedGoogle Scholar
  205. 205.
    Gawel M, Zaiwalla Z, Rose FC. Antecedent events in motor neuron disease. J Neurol Neurosurg Psychiatry. 1983;46:1041–3.PubMedCrossRefGoogle Scholar
  206. 206.
    Farrell DF, Starr A. Delayed neurological sequelae of electrical injuries. Neurology. 1968;18:601–6.PubMedCrossRefGoogle Scholar
  207. 207.
    Abhinav K, Al-Chalabi A, Hortobagyi T, Leigh PN. Electrical injury and amyotrophic lateral sclerosis: a systematic review of the literature. J Neurol Neurosurg Psychiatry. 2007;78:450–3.PubMedCrossRefGoogle Scholar
  208. 208.
    Christensen JA, Sherman RT, Balis GA, Wuamett JD. Delayed neurologic injury secondary to high-voltage current, with recovery. J Trauma. 1980;20:166–8.PubMedCrossRefGoogle Scholar
  209. 209.
    Kotagal S, Rawlings CA, Chen SC, Burris G, Npuriouri S. Neurologic, psychiatric, and cardiovascular complications in children struck by lightning. Pediatrics. 1982;70:190–2.PubMedGoogle Scholar
  210. 210.
    Panse F. Electrical trauma. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 23. Amsterdam: Elsevier; 1975. p. 683–729.Google Scholar
  211. 211.
    Gallagher JP, Talbert OR. Motor neuron syndrome after electric shock. Acta Neurol Scand. 1991;83:79–82.PubMedCrossRefGoogle Scholar
  212. 212.
    Greenfield MM, Stark FM. Post irradiation neuropathy. Am J Roentgenol Radium Ther Nucl Med. 1948;60:617–22.Google Scholar
  213. 213.
    Bradley WG, Robison SH, Tandan R, Besser D. Post-radiation motor neuron syndromes. Adv Neurol. 1991;56:341–53.PubMedGoogle Scholar
  214. 214.
    Berlit P, Schwechheimer K. Neuropathological findings in radiation myelopathy of the lumbosacral cord. Eur Neurol. 1987;27:29–34.PubMedCrossRefGoogle Scholar
  215. 215.
    Burns RJ, Jones AN, Robertson JS. Pathology of radiation myelopathy. J Neurol Neurosurg Psychiatry. 1972;35:888–98.PubMedCrossRefGoogle Scholar
  216. 216.
    Katirji MB. Delayed postradiation focal motor neuron syndrome. Muscle Nerve. 1990;13:1185–6.PubMedGoogle Scholar
  217. 217.
    Sadowsky CH, Sachs Jr E, Ochoa J. Postradiation motor neuron syndrome. Arch Neurol. 1976;33:786–7.PubMedCrossRefGoogle Scholar
  218. 218.
    Maier JG, Perry RH, Saylor W, Sulak MH. Radiation myelitis of the dorsolumbar spinal cord. Radiology. 1969;93:153–60.PubMedGoogle Scholar
  219. 219.
    Gallego J, Delgado G, Tunon T, Villanueva JA. Delayed postirradiation lower motor neuron syndrome. Ann Neurol. 1986;19:308–9.PubMedCrossRefGoogle Scholar
  220. 220.
    Horowitz SL, Stewart JD. Lower motor neuron syndrome following radiotherapy. Can J Neurol Sci. 1983;10:56–8.PubMedGoogle Scholar
  221. 221.
    De Carolis P, Montagna P, Cipulli M, Baldrati A, D’Alessandro R, Sacquegna T. Isolated lower motoneuron involvement following radiotherapy. J Neurol Neurosurg Psychiatry. 1986;49:718–9.PubMedCrossRefGoogle Scholar
  222. 222.
    Kristensen O, Melgard B, Schiodt AV. Radiation myelopathy of the lumbo-sacral spinal cord. Acta Neurol Scand. 1977;56:217–22.PubMedCrossRefGoogle Scholar
  223. 223.
    Lamy C, Mas JL, Varet B, Ziegler M, de Recondo J. Postradiation lower motor neuron syndrome presenting as monomelic amyotrophy. J Neurol Neurosurg Psychiatry. 1991;54:648–9.PubMedCrossRefGoogle Scholar
  224. 224.
    Malapert D, Brugieres P, Degos JD. Motor neuron syndrome in the arms after radiation treatment. J Neurol Neurosurg Psychiatry. 1991;54:1123–4.PubMedCrossRefGoogle Scholar
  225. 225.
    Reagan TJ, Thomas JE, Colby Jr MY. Chronic progressive radiation myelopathy. Its clinical aspects and differential diagnosis. JAMA. 1968;203:106–10.PubMedCrossRefGoogle Scholar
  226. 226.
    Godwin-Austen RB, Howell DA, Worthington B. Observations on radiation myelopathy. Brain. 1975;98:557–68.PubMedCrossRefGoogle Scholar
  227. 227.
    Tan SV, Pye IF. Postradiation motor neuron syndrome of the upper cervical region–a manifestation of the combined effect of cranial irradiation and intrathecal chemotherapy? J Neurol Neurosurg Psychiatry. 1991;54:469–70.PubMedCrossRefGoogle Scholar
  228. 228.
    Shapiro BE, Rordorff G, Schwamm L, Preston DC. Delayed radiation-induced bulbar palsy. Neurology. 1996;46:1604–6.PubMedCrossRefGoogle Scholar
  229. 229.
    Glantz MJ, Burger PC, Friedman AH, et al. Treatment of radiation-induced nervous system injury with heparin and warfarin. Neurology. 1994;44:2020–7.PubMedCrossRefGoogle Scholar
  230. 230.
    Brain L, Croft PB, Wilkinson M. Motor neurone disease as a manifestation of neoplasm (with a note on the course of classical motor neurone disease). Brain. 1965;88:479–500.PubMedCrossRefGoogle Scholar
  231. 231.
    Norris FH. Remote effects of cancer on spinal cord. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 38. Amsterdam: Elsevier; 1979. p. 669–77.Google Scholar
  232. 232.
    Forsyth PA, Dalmau J, Graus F, Cwik V, Rosenblum MK, Posner JB. Motor neuron syndromes in cancer patients. Ann Neurol. 1997;41:722–30.PubMedCrossRefGoogle Scholar
  233. 233.
    Kurtzke JF, Beebe GW. Epidemiology of amyotrophic lateral sclerosis: 1. A case–control comparison based on ALS deaths. Neurology. 1980;30:453–62.PubMedCrossRefGoogle Scholar
  234. 234.
    Chio A, Brignolio F, Meineri P, Rosso MG, Tribolo A, Schiffer D. Motor neuron disease and malignancies: results of a population-based study. J Neurol. 1988;235:374–5.PubMedCrossRefGoogle Scholar
  235. 235.
    Evans BK, Fagan C, Arnold T, Dropcho EJ, Oh SJ. Paraneoplastic motor neuron disease and renal cell carcinoma: improvement after nephrectomy. Neurology. 1990;40:960–2.PubMedCrossRefGoogle Scholar
  236. 236.
    Buchanan DS, Malamud N. Motor neuron disease with renal cell carcinoma and postoperative neurologic remission. A clinicopathologic report. Neurology. 1973;23:891–4.PubMedCrossRefGoogle Scholar
  237. 237.
    Mitchell DM, Olczak SA. Remission of a syndrome indistinguishable from motor neurone disease after resection of bronchial carcinoma. Br Med J. 1979;2:176–7.PubMedCrossRefGoogle Scholar
  238. 238.
    Rowland LP. Paraneoplastic primary lateral sclerosis and amyotrophic lateral sclerosis. Ann Neurol. 1997;41:703–5.PubMedCrossRefGoogle Scholar
  239. 239.
    Dalmau J, Graus F, Rosenblum MK, Posner JB. Anti-Hu-associated paraneoplastic encephalomyelitis/sensory neuronopathy. A clinical study of 71 patients. Medicine (Baltimore). 1992;71:59–72.Google Scholar
  240. 240.
    Verma A, Berger JR, Snodgrass S, Petito C. Motor neuron disease: a paraneoplastic process associated with anti-Hu antibody and small-cell lung carcinoma. Ann Neurol. 1996;40:112–6.PubMedCrossRefGoogle Scholar
  241. 241.
    Khwaja S, Sripathi N, Ahmad BK, Lennon VA. Paraneoplastic motor neuron disease with type I Purkinje cell antibodies. Muscle Nerve. 1998;21:943–5.PubMedCrossRefGoogle Scholar
  242. 242.
    Younger DS, Rowland LP, Latov N, et al. Lymphoma, motor neuron diseases, and amyotrophic lateral sclerosis. Ann Neurol. 1991;29:78–86.PubMedCrossRefGoogle Scholar
  243. 243.
    Fishman PS, Shy ME, Hart DE, Thompson PE, Cashman NR. Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma. Arch Neurol. 1991;48:1188–90.PubMedCrossRefGoogle Scholar
  244. 244.
    Ferracci F, Fassetta G, Butler MH, Floyd S, Solimena M, De Camilli P. A novel antineuronal antibody in a motor neuron syndrome associated with breast cancer. Neurology. 1999;53:852–5.PubMedCrossRefGoogle Scholar
  245. 245.
    Rosenfeld MR, Posner JB. Paraneoplastic motor neuron disease. Adv Neurol. 1991;56:445–59.PubMedGoogle Scholar
  246. 246.
    Gordon PH, Rowland LP, Younger DS, et al. Lymphoproliferative disorders and motor neuron disease: an update. Neurology. 1997;48:1671–8.PubMedCrossRefGoogle Scholar
  247. 247.
    Louis ED, Hanley AE, Brannagan TH, et al. Motor neuron disease, lymphoproliferative disease, and bone marrow biopsy. Muscle Nerve. 1996;19:1334–7.PubMedCrossRefGoogle Scholar
  248. 248.
    Schold SC, Cho ES, Somasundaram M, Posner JB. Subacute motor neuronopathy: a remote effect of lymphoma. Ann Neurol. 1979;5:271–87.PubMedCrossRefGoogle Scholar
  249. 249.
    Peacock A, Dawkins K, Rushworth G. Motor neuron disease associated with bronchial carcinoma. Br Med J. 1979;2:499–500.PubMedCrossRefGoogle Scholar
  250. 250.
    Younger DS, Chou S, Hays AP, et al. Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol. 1988;45:1304–7.PubMedCrossRefGoogle Scholar
  251. 251.
    Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992;115:495–520.PubMedCrossRefGoogle Scholar
  252. 252.
    Rowland LP, Sherman WH, Latov N, et al. Amyotrophic lateral sclerosis and lymphoma: bone marrow examination and other diagnostic tests. Neurology. 1992;42:1101–2.PubMedCrossRefGoogle Scholar
  253. 253.
    Younger DS, Rowland LP, Latov N, et al. Motor neuron disease and amyotrophic lateral sclerosis: relation of high CSF protein content to paraproteinemia and clinical syndromes. Neurology. 1990;40:595–9.PubMedCrossRefGoogle Scholar
  254. 254.
    Conradi S, Ronnevi LO, Norris FH. Motor neuron disease and toxic metals. Adv Neurol. 1982;36:201–31.PubMedGoogle Scholar
  255. 255.
    Boothby JA, DeJesus PV, Rowland LP. Reversible forms of motor neuron disease. Lead “neuritis”. Arch Neurol. 1974;31:18–23.PubMedCrossRefGoogle Scholar
  256. 256.
    Buchthal F, Behse F. Electrophysiological and nerve biopsy in men exposed to lead. Br J Int Med. 1979;36:135.Google Scholar
  257. 257.
    Ahlskog JE, Waring SC, Kurland LT, et al. Guamanian neurodegenerative disease: investigation of the calcium metabolism/heavy metal hypothesis. Neurology. 1995;45:1340–4.PubMedCrossRefGoogle Scholar
  258. 258.
    Jackson CE, Amato AA, Bryan WW, Wolfe GI, Sakhaee K, Barohn RJ. Primary hyperparathyroidism and ALS: is there a relation? Neurology. 1998;50:1795–9.PubMedCrossRefGoogle Scholar
  259. 259.
    Carvalho AAS, Vieira A, Simplicio H, Fugygara S, Carvalho SM, Rigueiro MP. Primary hyperparathyroidism simulating motor neuron disease. Arq Neuropsiquiatr. 2005;63:160–2.PubMedCrossRefGoogle Scholar
  260. 260.
    Carnevale V, Minisola S, Romagnoli E, et al. Concurrent improvement of neuromuscular and skeletal involvement following surgery for primary hyperparathyroidism. J Neurol. 1992;239:57.PubMedCrossRefGoogle Scholar
  261. 261.
    Delbridge LW, Marshman D, Reeve TS, Crummer P, Posen S. Neuromuscular symptoms in elderly patients with hyperparathyroidism: improvement with parathyroid surgery. Med J Aust. 1988;149:74–6.PubMedGoogle Scholar
  262. 262.
    Gentric A, Pennec YL. Fatal primary hyperparathyroidism with myopathy involving respiratory muscles in an old woman. J Am Geriatr Soc. 1994;42:1306.PubMedGoogle Scholar
  263. 263.
    Thomas P, Lebrun C. Progressive spastic paraparesis revealing primary hyperparathyroidism. Neurology. 1994;44:178–9.PubMedCrossRefGoogle Scholar
  264. 264.
    Turken SA, Cafferty M, Silverberg SJ, et al. Neuromuscular involvement in mild, asymptomatic primary hyperparathyroidism. Am J Med. 1989;87:553–7.PubMedCrossRefGoogle Scholar
  265. 265.
    Patten BM, Bilezikian JP, Mallette LE, Prince A, Engel WK, Aurbach GD. Neuromuscular disease in primary hyperparathyroidism. Ann Intern Med. 1974;80:182–93.PubMedCrossRefGoogle Scholar
  266. 266.
    Gardner MB. Retroviral leukemia and lower motor neuron disease in wild mice: natural history, pathogenesis, and genetic resistance. Adv Neurol. 1991;56:473–9.PubMedGoogle Scholar
  267. 267.
    Jubelt B. Viruses and motor neuron diseases. Adv Neurol. 1991;56:463–72.PubMedGoogle Scholar
  268. 268.
    Jolicoeur P. Neuronal loss in a lower motor neuron disease induced by a murine retrovirus. Can J Neurol Sci. 1991;18:411–3.PubMedGoogle Scholar
  269. 269.
    Jolicoeur P, Rassart E, DesGroseillers L, Robitaille Y, Paquette Y, Kay DG. Retrovirus-induced motor neuron disease of mice: molecular basis of neurotropism and paralysis. Adv Neurol. 1991;56:481–93.PubMedGoogle Scholar
  270. 270.
    Engel WK. Does a retrovirus cause amyotrophic lateral sclerosis? Ann Neurol. 1991;30:431–3.PubMedCrossRefGoogle Scholar
  271. 271.
    Huang PP, Chin R, Song S, Lasoff S. Lower motor neuron dysfunction associated with human immunodeficiency virus infection. Arch Neurol. 1993;50:1328–30.PubMedCrossRefGoogle Scholar
  272. 272.
    Hoffman PM, Festoff BW, Giron Jr LT, Hollenbeck LC, Garruto RM, Ruscetti FW. Isolation of LAV/HTLV-III from a patient with amyotrophic lateral sclerosis. N Engl J Med. 1985;313:324–5.PubMedCrossRefGoogle Scholar
  273. 273.
    Snider WD, Simpson DM, Nielsen S, Gold JW, Metroka CE, Posner JB. Neurological complications of acquired immune deficiency syndrome: analysis of 50 patients. Ann Neurol. 1983;14:403–18.PubMedCrossRefGoogle Scholar
  274. 274.
    Verma RK, Ziegler DK, Kepes JJ. HIV-related neuromuscular syndrome simulating motor neuron disease. Neurology. 1990;40:544–6.PubMedCrossRefGoogle Scholar
  275. 275.
    Henning F, Hewlett RH. Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. J Neurol Neurosurg Psychiatry. 2008;79:1392–4.PubMedCrossRefGoogle Scholar
  276. 276.
    Berger JR, Espinosa PS, Kissel J. Brachial amyotrophic diplegia in a patient with human immunodeficiency virus infection. Arch Neurol. 2005;62:817–23.PubMedCrossRefGoogle Scholar
  277. 277.
    Roman G. Tropical myeloneuropathies revisited. Curr Opin Neurol. 1998;11:539–44.PubMedCrossRefGoogle Scholar
  278. 278.
    Jubelt B, Drucker J. post polio syndrome: an update. Semin Neurol. 1993;13:283–90.PubMedCrossRefGoogle Scholar
  279. 279.
    Dean E, Ross J, Read JD, et al. Pulmonary function in individuals with a history of poliomyelitis. Chest. 1991;100:118–23.PubMedCrossRefGoogle Scholar
  280. 280.
    Sonies BC, Dalakas MC. Dysphagia in patients with the post polio syndrome. N Engl J Med. 1991;324:1162–7.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • J. Americo M. Fernandes Filho
    • 1
    • 2
  • Eroboghene E. Ubogu
    • 3
  1. 1.Department of Neurological SciencesUniversity of Nebraska Medical Center, Neurology Section, VA Nebraska Western Iowa Health Care SystemOmahaUSA
  2. 2.Neurology SectionVA Nebraska-Western Iowa Health Care SystemOmahaUSA
  3. 3.Department of Neurology, Neuromuscular Immunopathology Research LaboratoryBaylor College of Medicine, One Baylor PlazaHoustonUSA

Personalised recommendations