Skip to main content
SpringerLink
Log in
Book cover

Neurodegenerative Diseases pp 313–336Cite as

Rare Dementias

  • Chapter
  • First Online:

  • 1372 Accesses

Abstract

Dementia is becoming a worldwide phenomenon. Alzheimer’s disease represents the first cause of cognitive impairment followed by vascular dementia and fronto-temporal dementia. However, in addition to these well-studied dementia causes there is a wide number of conditions that can cause dementia as infections, toxic-metabolic conditions, inflammatory-autoimmune disorders, or metabolic inborn errors. These uncommon dementia causes, due to the heterogeneous clinical presentation, lack of diagnostic criteria, and rare frequency are often misdiagnosed. Their prevalence has been only partially estimated among young patients (age at onset <65 years), and their management is based only on some expert suggestions. However, a correct diagnosis is of a great importance, since some of them are treatable and reversible dementias.

This chapter presents a comprehensive summary of etiologies, clinical presentation, typical features, diagnostic strategies, and treatments of known uncommon dementias.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Rossor MN, Fox NC, Mummery CJ, et al. The diagnosis of young-onset dementia. Lancet Neurol. 2010;9:793–806.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Harvey RJ, Skelton-Robinson M, Rossor MN, et al. The prevalence and causes of dementia in people under the age of 65 years. J Neurol Neurosurg Psychiatry. 2003;74:1206–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Fujihara S, Brucki SM, Rocha MS, et al. Prevalence of presenile dementia in a tertiary outpatient clinic. Arq Neuropsiquiatr. 2004;62(3):592–5.

    Article  PubMed  Google Scholar 

  4. Panegyres PK, French K. Course and causes of suspected dementia in young adults: a longitudinal study. Am J Alzheimers Dis Other Demen. 2007;22(1):48–56.

    Article  PubMed  Google Scholar 

  5. Shinagawa S, Ikeda M, Toyota Y, et al. Frequency and clinical characteristics of early-onset dementia in consecutive patients in a memory clinic. Dement Geriatr Cogn Disord. 2007;24(1):42–7.

    Article  PubMed  Google Scholar 

  6. Kelley BJ, Boeve BF, Josephs KA. Young-onset dementia: demographic and etiologic characteristics of 235 patients. Arch Neurol. 2008;65(11):1502–8.

    Article  PubMed  Google Scholar 

  7. Sampson EL, Warren JD, Rossor MN. Youn onset dementia. Postgrad Med J. 2004;80:125–39.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Kuruppu DK, Matthews BR. Young-Onset Dementia. Semin Neurol. 2013;33:365–85.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010;5:40–8.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Wyant KJ, Ridder AJ, Dayalu P. Huntington’s disease—update on treatments. Curr Neurol Neurosci Rep. 2017;17:33.

    Article  PubMed  Google Scholar 

  11. Sorbi S, Hort J, Erkinjuntti T, et al. EFNS-ENS guidelines on the diagnosis and management of disorders associated with dementia. Eur J Neurol. 2012;19:1159–79.

    Article  CAS  PubMed  Google Scholar 

  12. Gallina P, Paganini M, Lombardini L, et al. Progress in restorative neurosurgery: human fetal striatal transplantation in Huntington’s disease. Review. J Neurosurg Sci. 2011;55(4):371–81.

    CAS  PubMed  Google Scholar 

  13. Paganini M, Biggeri A, Romoli AM et al. Fetal striatal grafting slows motor and cognitive decline of Huntington’s disease. J Neurol Neurosurg Psychiatry. 2014.

    Google Scholar 

  14. De Antonio M, Dogan C, Hamroun D, et al. Unravelling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study with implications for disease classification. Rev Neurol. 2016;172:572–80.

    Article  PubMed  Google Scholar 

  15. Gourdon G, Meola G. Myotonic dystrophies: state of the art of new therapeutic developments for the CNS. Front Cell Neurosci. 2017;11:101. https://doi.org/10.3389/fncel.2017.00101.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Rossia M, Perez-Lloretb S, Doldand L, et al. Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol. 2014;21:607–15.

    Article  Google Scholar 

  17. Murphy S, Gorman G, Beetz C, et al. Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. Neurology. 2009;73(5):378–84.

    Article  CAS  PubMed  Google Scholar 

  18. Bourgeois J, Coffey S, Rivera SM, et al. Fragile X premutation disorders – expanding the psychiatric perspective. J Clin Psychiatry. 2009;70(6):852–62.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Hagerman RJ, Hall DA, Coffey S, et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008;3(2):251–62.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Fragile X syndrome: an overview and update of the FMR1 gene. Clin Genet 2017. doi: https://doi.org/10.1111/cge.13075.

  21. Parikh S, Bernard G, Leventer RJ, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab. 2015;114:501–15.

    Article  CAS  PubMed  Google Scholar 

  22. Lynch DS, Zhang WJ, Lakshmanan R, et al. Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. JAMA Neurol. 2016;73(12):1433–9.

    Article  PubMed  Google Scholar 

  23. Vanderver A. Genetic leukoencephalopathies in adults. Continuum (Minneap Minn). 2016;22(3):916–42.

    Google Scholar 

  24. Nannucci S, Donnini I, Pantoni L. Inherited leukoencephalopathies with clinical onset in middle and old age. J Neurol Sci. 2014;347(1–2):1–13.

    Article  PubMed  Google Scholar 

  25. Köhler W. Leukodystrophies with late disease onset: an update. Curr Opin Neurol. 2010;23(3):234–41.

    Article  PubMed  Google Scholar 

  26. Luda E, Barisone MG. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci. 2001;22:21–5.

    Article  CAS  PubMed  Google Scholar 

  27. Turk BR, Moser AB, Fatemi A. Therapeutic strategies in adrenoleukodystrophy. Wien Med Wochenschr. 2017;167:219–22.

    Article  PubMed  Google Scholar 

  28. Debs R, Froissart R, Aubourg P, et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis. 2013;36:859–68.

    Article  PubMed  Google Scholar 

  29. Lim SM, Choi B-O, Oh S-i, et al. Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. Oncotarget. 2016;7(46):74496–509.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Gieselmann V, Krägeloh-Mann I. Metachromatic leukodystrophy – an update. Neuropediatrics. 2010;41:1–6.

    Article  CAS  PubMed  Google Scholar 

  31. Penati R, Fumagalli F, Calbi V, et al. Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccharidosis I. J Inherit Metab Dis. https://doi.org/10.1007/s10545-017-0052-4.

  32. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2012;44:200–5.

    Article  CAS  Google Scholar 

  33. Konnoa K, Yoshidac T, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017;24:37–45.

    Article  Google Scholar 

  34. Eichler FS, Li J, Guo Y, et al. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016;139:1666–72.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014;82:2063–71.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Lakshmanan R, Adams ME, Lynch DS, et al. Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurol Genet. 2017;3(2):e135.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013:1–11.

    Google Scholar 

  38. Appadurai V, DeBarber A, Chiang P-W, et al. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015;116(4):298–304.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 2008;131:2321–31.

    Article  PubMed  Google Scholar 

  40. Mochel F, Schiffmann R, Steenweg ME, et al. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol. 2012;72(3):433–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Carra-Dalliere C, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases. Rev Neurol (Paris). 2011;167(11):802–11.

    Article  CAS  Google Scholar 

  42. Tan RY, Markus HS. Monogenic causes of stroke: now and the future. J Neurol. 2015;262:2601–16.

    Article  PubMed  Google Scholar 

  43. Narayan SK, Gorman G, Kalaria RN, et al. The minimum prevalence of CADASIL in northeast England. Neurology. 2012;78(13):1025–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Søndergaarda CB, Nielsenb JE, Hansena CK, Christensena H. Hereditary cerebral small vessel disease and stroke. Clin Neurol Neurosurg. 2017;155:45–57.

    Article  Google Scholar 

  45. Kaufman KR, Zuber N, Rueda-Lara MA, et al. MELAS with recurrent complex partial seizures, non convulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review. Epilepsy Behav. 2010;18(4):494–7.

    Article  PubMed  Google Scholar 

  46. McFarland R, Taylor RT, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol. 2010;9:829–40.

    Article  CAS  PubMed  Google Scholar 

  47. Sigmundsdottir L, Tchan MC, Knopman AA, et al. Cognitive and psychological functioning in Fabry disease. Arch Clin Neuropsychol. 2014;29(7):642–50.

    Article  PubMed  PubMed Central  Google Scholar 

  48. El Dib R, Gomaa H, Ortiz A, et al. Enzyme replacement therapy for AndersonFabry disease: a complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS One. 2017;12(3):e0173358. https://doi.org/10.1371/journal.pone.0173358.

    Article  PubMed  PubMed Central  Google Scholar 

  49. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):pii: E441. https://doi.org/10.3390/ijms18020441.

    Article  Google Scholar 

  50. O’Regan G, deSouza RM, Balestrino R, Schapira AH. Glucocerebrosidase mutations in Parkinson disease. J Parkinsons Dis. 2017. https://doi.org/10.3233/JPD-171092.

  51. Vanier MT. Niemann-pick disease type C. Orphanet J Rare Dis. 2010;5:16.

    Article  PubMed  PubMed Central  Google Scholar 

  52. Berkovic SF, Staropoli JF, Carpenter S, et al. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. 2016;87(6):579–84.

    CAS  PubMed  PubMed Central  Google Scholar 

  53. Geraets RD, Koh SY, Hastings ML, et al. Moving towards effective therapeutic strategies for neuronal Ceroid Lipofuscinosis. Orphanet J Rare Dis. 2016;11:40.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Neudorfer O, Pastores GM, Zeng BJ, et al. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005;7(2):119–23.

    Article  CAS  PubMed  Google Scholar 

  55. Patterson MC. Gangliosidoses. Handb Clin Neurol. 2013;113:1707–8. https://doi.org/10.1016/B978-0-444-59565-2.00039-3.

    Article  PubMed  Google Scholar 

  56. Walterfanga M, Evansa A, Chee Leong Looid J, et al. The neuropsychiatry of neuroacanthocytosis syndrome. Neurosci Biobehav Rev. 2011;35:1275–83.

    Article  Google Scholar 

  57. Tello C, Darling A, Lupo V, et al. On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. Clin Genet. 2017. https://doi.org/10.1111/cge.13057.

  58. Saleem S, Aslam HM, Anwar M. Fahr’s syndrome: literature review of current evidence. Orphanet J Rare Dis. 2013;8:156.

    Article  PubMed  PubMed Central  Google Scholar 

  59. Batla A, Tai XY, Schottlaender L, et al. Deconstructing Fahr’s disease/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord. 2017;37:1–10.

    Article  PubMed  Google Scholar 

  60. Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore). 2007;86(2):112–21.

    Article  Google Scholar 

  61. Bhatnagar N, Lingaiah P, Lodhi JS, Karkhur Y. Pathological fracture of femoral neck leading to a diagnosis of Wilson’s disease: a case report and review of literature. J Bone Metab. 2017 May;24(2):135–9. https://doi.org/10.11005/jbm.2017.24.2.135.

    Article  PubMed  PubMed Central  Google Scholar 

  62. Aggarwal A, Bhatt M. Recovery from severe neurological Wilson’s disease with copper chelation. Int Rev Neurobiol. 2013;110:313–48.

    Article  CAS  PubMed  Google Scholar 

  63. Dardiotis E, Siokas V, Pantazi E, et al. A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature. Neurobiol Aging. 2017;53:194.e13–22.

    Article  CAS  Google Scholar 

  64. Kaneko M, Sano K, Nakayama J, Amano N. Nasu-Hakola disease: the first case reported by Nasu and review: the 50th anniversary of Japanese society of neuropathology. Neuropathology. 2010;30(5):463–70.

    PubMed  Google Scholar 

  65. Kang HE, Mo Y, Abd Rahim R, Lee HM, Ryou C. Prion diagnosis: application of real-time quaking-induced conversion. Biomed Res Int 2017;2017:5413936.

    Google Scholar 

  66. Valcour V, Paul R, Chiao S, Wendelken LA, Miller B. Screening for cognitive impairment in human immunodeficiency virus. Clin Infect Dis. 2011;53(8):836–42.

    Article  PubMed  PubMed Central  Google Scholar 

  67. Read PJ, Donovan B. Clinical aspects of adult syphilis. Intern Med J. 2012;42(6):614–20.

    Article  CAS  PubMed  Google Scholar 

  68. Halperin JJ. Nervous system lyme disease: diagnosis and treatment. Curr Treat Options Neurol. 2013;15(4):454–64.

    Article  PubMed  Google Scholar 

  69. Halperin JJ. Lyme disease: a multisystem infection that affects the nervous system. Continuum (Minneap Minn). 2012;18(6 Infectious Disease):1338–50.

    Google Scholar 

  70. Puéchal X. Whipple’s disease. Ann Rheum Dis. 2013;72(6):797–803.

    Article  PubMed  Google Scholar 

  71. Graus F, Saiz A. Limbic encephalitis: an expanding concept. Neurology. 2008;70:500–1.

    Article  PubMed  Google Scholar 

  72. Serratrice G, Pellissier JF, Serratrice J, De Paula A. Limbic encephalitis – evolving concepts. Bull Acad Natl Med. 2008;192(8):1531–41.

    PubMed  Google Scholar 

  73. Mocellin R, Walterfang M, Velakoulis D. Hashimoto’s encephalopathy: epidemiology, pathogenesis and management. CNS Drugs. 2007;21(10):799–811.

    Article  CAS  PubMed  Google Scholar 

  74. Victor M. Alcoholic dementia. Can J Neurol Sci. 1994;21:88–99.

    Article  CAS  PubMed  Google Scholar 

  75. Chalouhi C, Faesch S, Anthoine-Milhomme MC, et al. Neurological consequences of vitamin B12 deficiency and its treatment. Pediatr Emerg Care. 2008;24(8):538–41.

    Article  PubMed  Google Scholar 

  76. Ibrahim D, Froberg B, Wolf A, Rusyniak DE. Heavy metal poisoning: clinical presentations and pathophysiology. Clin Lab Med. 2006;26(1):67–97.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. IRCCS Don Gnocchi, Florence, Italy

    Camilla Ferrari & Sandro Sorbi

  2. Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy

    Benedetta Nacmias & Sandro Sorbi

Authors
  1. Camilla Ferrari
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Benedetta Nacmias
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sandro Sorbi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Camilla Ferrari .

Editor information

Editors and Affiliations

  1. University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Daniela Galimberti

  2. University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Elio Scarpini

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Ferrari, C., Nacmias, B., Sorbi, S. (2018). Rare Dementias. In: Galimberti, D., Scarpini, E. (eds) Neurodegenerative Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-72938-1_15

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-72938-1_15

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-72937-4

  • Online ISBN: 978-3-319-72938-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation