Skip to main content
SpringerLink
Log in

Autonomic involvement in inherited neuropathies

  • Guest Lecture
  • Published:
Clinical Autonomic Research Aims and scope Submit manuscript

Abstract

The inherited peripheral neuropathies constitute a large group of disorders, in some of which the causative metabolic defect has been identified whereas in the majority it is still unknown. Amongst the former, autonomic involvement is an important component in porphyric neuropathy, in the familial amyloid polyneuropathies, in Fabry's disease and in dopamineβ-hydroxylase deficiency. The latter group includes the hereditary sensory and autonomic neuropathies in some of which, such as the Riley-Day syndrome, autonomic disturbances are prominent, whereas in others they constitute only a minor component of the symptomatology. Autonomic dysfunction is an important component of the neurological manifestations in multiple endocrine neoplasia type IIB.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Berlin L, Cotton R. Gastrointestinal manifestations of porphyria.Am J Dig Dis 1950;17: 110–114.

    PubMed  Google Scholar 

  2. Goldberg A. Acute intermittent porphyria: A study of 50 cases.Q J Med 1959;28: 183–209.

    PubMed  Google Scholar 

  3. Yeung Laiwah AC, MacPhee GVA, Boyle P, Moore MR, Goldberg A. Autonomic neuropathy in acute intermittent porphyria.J Neurol Neurosurg Psychiatry 1985;48: 1025–1030.

    PubMed  Google Scholar 

  4. Ridley A, Hierons R, Cavanagh JB. Tachycardia and the neuropathy of porphyria.Lancet 1968;ii: 708–710

    Google Scholar 

  5. Schley G, Bock KD, Hocevar V, Merguet P, Schröder JGRS, Schüman HJ. Hochdruch und Tachykardie bei der akuten inter-mittierenden Porphyrie.Klin Wochenschr 1970;48: 36–42.

    PubMed  Google Scholar 

  6. Beal MF, Atuk NO, Westfall TC, Turner SM. Catecholamine uptake, accumulation, and release in acute porphyria.J Clin Invest 1977;60: 1141–1148.

    PubMed  Google Scholar 

  7. Kezdi P. Neurogenic hypertension in man in porphyria. Transient hypertension and tachycardia caused by disruption of the carotid sinus. Review of buffer nerve mechanisms.Arch Intern Med 1954;94: 122–130.

    Google Scholar 

  8. Beattie AD, Goldberg A. Acute intermittent porphyria. Natural history and prognosis. In: Doss M, ed.Porphyrins and Human Disease. Basel: Karger, 1976; 245.

    Google Scholar 

  9. Cavanagh JB, Mellick RS. On the nature of the peripheral nerve lesions associated with acute intermittent porphyria.J Neurol Neurosurg Psychiatry 1965;28: 320–327.

    PubMed  Google Scholar 

  10. Hierons R. Changes in the nervous system in acute porphyria.Brain 1967;80: 176–192.

    Google Scholar 

  11. Andrade C. A peculiar form of peripheral neuropathy.Brain 1952;75: 408–427.

    PubMed  Google Scholar 

  12. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family.Arch Neurol 1968;18: 593–602.

    PubMed  Google Scholar 

  13. Dyck PJ, Lambert EH. Dissociated sensation in amyloidosis.Arch Neurol 1969;20: 490–507.

    PubMed  Google Scholar 

  14. Thomas PK, King RHM. Peripheral nerve changes in amyloid neuropathy.Brain 1974;97: 395–406.

    PubMed  Google Scholar 

  15. Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JH, Curtis AC. Primary systemic amyloidosis: a review and an experimental genetic and clinical study of 29 cases with particular emphasis on the familial form.Medicine (Baltimore) 1956;35: 239–334.

    Google Scholar 

  16. Mahloudji M, Teasdall RD, Adamkiewicz JJ, McKusick VA. The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis. Type II (Indiana or Rukavina type).Medicine (Baltimore) 1969;48: 1–37.

    Google Scholar 

  17. Van Allen MW, Frolich JA, Davis JR. Inherited predisposition to generalized amyloidosis.Neurology 1969;19: 10–25.

    PubMed  Google Scholar 

  18. Nichols WC, Dwulet FE, Liepneiks J, Benson MD. Variant apolipoprotein A1 as a major constituent of a human hereditary amyloid.Biochem Biophys Res Comm 1988;156: 762–768.

    PubMed  Google Scholar 

  19. Bischoff A, Fierz U, Regli G, Ulrich G. Peripheral neurological findings in Fabry's disease.Klin Wochenschr 1968;46: 666–671.

    PubMed  Google Scholar 

  20. Kocen RS, Thomas PK. Peripheral nerve involvement in Fabry's disease.Arch Neurol 1970;22: 81–88.

    PubMed  Google Scholar 

  21. Ohnishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry's disease.Arch Neurol 1974;31: 120–127.

    PubMed  Google Scholar 

  22. Cable WJL, Kolodny EH, Adams RD. Fabry's disease: impaired autonomic function.Neurology 1982;32: 498–502.

    PubMed  Google Scholar 

  23. Robertson D, Goldberg MR, Onrot J, Hollister AS, Wiley R, Thompson JG, Robertson RM. Isolated failure of autonomic noradrenergic neurotransmission; evidence for impairedβ-hydroxylation of dopamine.N Engl J Med 1986;314: 1494–1497.

    PubMed  Google Scholar 

  24. Man In't Veld AJ, Boomsma H, Moleman P, Schalekamp MA. Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome.Lancet 1987;i: 183–188.

    Google Scholar 

  25. Mathias CJ, Bannister RB, Cortelli P, Heslop K, Polak JM, Raimbach S, Springall DR, Watson L. Clinical autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase.Q J Med 1990;75: 617–633.

    PubMed  Google Scholar 

  26. Denny-Brown D. Hereditary sensory radicular neuropathy.J Neurol Neurosurg Psychiatry 1951;14: 237.

    Google Scholar 

  27. Hicks EP. Hereditary perforating ulcer of the foot.Lancet 1922;i: 319–321.

    Google Scholar 

  28. Dyck PJ, Mellinger JF, Reagen TJ, Horowitz SJ, McDonald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH. Not ‘indifference to pain’ but varieties of hereditary sensory and autonomic neuropathy.Brain 1983;106: 373–390.

    PubMed  Google Scholar 

  29. Göbell R, Runge W. Eine familiäre Trophoneurose der unteren Extremitäten.Arch Psychiat Nervenkrank 1917;57: 297–364.

    Google Scholar 

  30. Ogryzlo MA. A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.Can Med Ass J 1964;54: 547–553.

    Google Scholar 

  31. Murray TJ. Congenital sensory neuropathy.Brain 1973;96: 387–394.

    PubMed  Google Scholar 

  32. Nukada H, Pollock M, Haas LF. The clinical spectrum and morphology of type II hereditary sensory neuropathy.Brain 1982;105: 647–665.

    PubMed  Google Scholar 

  33. Johnson RH, Spalding JMK. Progressive sensory neuropathy in children.J Neurol Neurosurg Psychiatry 1964;27: 125–130.

    Google Scholar 

  34. Swanson AG. Congenital insensitivity to pain with anhidrosis: a unique syndrome in two male siblings.Arch Neurol 1963;8: 299–306.

    PubMed  Google Scholar 

  35. Swanson AG, Buchan GC, Alvord EC. Anatomic changes in congenital insensitivity to pain: absence of small primary sensory neurons in ganglia, roots and Lissauer's tract.Arch Neurol 1965;12: 12–24

    PubMed  Google Scholar 

  36. Brown JW, Podosin R. A syndrome of the neural crest.Arch Neurol 1966;15: 294–301.

    PubMed  Google Scholar 

  37. Pinsky L, DiGeorge AM. Congenital familial sensory neuropathy with anhidrosis.J Pediat 1966;68: 1–13.

    PubMed  Google Scholar 

  38. Vassella F, Emrich HM, Kraus-Ruppert R, Aufdermaur F, Tönz O. Congenital sensory neuropathy with anhidrosis.Arch Dis Child 1968;43: 124–130.

    PubMed  Google Scholar 

  39. Bischoff A, Curti R. Histologische Befunde am peripheren Nervensystem bei einen Fall von kongenitaler sensorischer Neuropathie mit Anhidrose. In: Lassmann G, Jurecka W, Neibauer M, eds.Struktur und Pathologie des Hautnervensystems. Vienna: Verband der Wissenschaftlichen Gesellschaften, 1977; 1–10.

    Google Scholar 

  40. Goebel HH, Veit S, Dyck PJ. Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV.J Neuropathol Exp Neurol 1980;39: 670–675.

    PubMed  Google Scholar 

  41. Axelrod FB, Nachtigal R, Dancis J. Familial dysautonomia: diagnosis, pathogenesis and management. In: Schulman I, ed.Advances in Pediatrics, vol XXI. Chicago, Year Book, 1974.

    Google Scholar 

  42. Ziegler MG, Lake RC, Kopin IJ. Deficient sympathetic nervous response in familial dysautonomia.New Engl J Med 1976;294: 630–633.

    PubMed  Google Scholar 

  43. Smith AA, Dancis J, Brienin G. Ocular responses to autonomic drugs in familial dysautonomia.Invest Ophthalmol 1965;4: 358–361.

    Google Scholar 

  44. Korczyn A, Rubenstein A, Yahr M, Axelrod F. The pupil in familial dysautonomia.Neurology 1981;31: 628–629.

    PubMed  Google Scholar 

  45. Filler J, Smith AA, Stone S, Dancis J. Respiratory control in familial dysautonomia.J Pediat 1965;66: 509–516.

    PubMed  Google Scholar 

  46. Edelman NH, Cherniack NS, Lahiri S, Richards E, Fishman AP. The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia.J Clin Invest 1970;49: 1153–1169.

    PubMed  Google Scholar 

  47. Aguayo AJ, Nair CPV, Bray GM. Peripheral nerve abnormalities in the Riley-Day syndrome: findings in a sural nerve biopsy.Arch Neurol 1971;24: 106–116.

    PubMed  Google Scholar 

  48. Pearson J, Pytel B, Grover-Johnson N, Axelrod F, Dancis J. Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia.J Neurol Sci 1978;35: 77–92.

    PubMed  Google Scholar 

  49. Nordborg C, Conradi N, Sourander P, Westerberg B. A new type of non-progressive sensory neuropathy in children with atypical dysautonomia.Acta Neuropathol (Berl) 1981;55: 135–142.

    Google Scholar 

  50. Donaghy M, Hakin RN, Bamford JM, Garner A, Kirkby GR, Noble BA, Tazir-Melboucy M, King RHM, Thomas PK. Hereditary sensory neuropathy with neurotrophic keratitis: Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies.Brain 1987;110: 181.

    PubMed  Google Scholar 

  51. Low PA, Burke WJ, McLeod JG. Congenital sensory neuropathy with selective loss of small myelinated nerve fibers.Ann Neurol 1978;3: 179–182.

    PubMed  Google Scholar 

  52. Johnsen SD, Johnsen P, Stein SC. A new hereditary sensory autonomic neuropathy in a Navajo population.Ann Neurol 1985;18: 400–401.

    Google Scholar 

  53. Appenzeller O. Autonomic neuropathies: clinical syndromes. In:Autonomic Neuropathies. New Issues in Neurosciences 1988/89;1: 291–310.

  54. Horstink MW. Multiple mucosal neuromas, dysautonomia and abnormal intradermal histamine reaction.Clin Neurol Neurosurg 1974;77: 212–224.

    Google Scholar 

  55. Carney JA. Multiple endocrine neoplasia, type 2B. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, eds.Peripheral Neuropathy, 2nd edition. Philadelphia: WB Saunders, 1984; 1642–1655.

    Google Scholar 

  56. Shy GM, Drager GA. A neurological syndrome associated with orthostatic hypotension.Arch Neurol 1960;2: 511–527.

    PubMed  Google Scholar 

  57. Lewis P. Familial orthostatic hypotension.Brain 1964;87: 719–728.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurological Science, Royal Free Hospital School of Medicine and Institute of Neurology, Rowland Hill Street, NW3 2PF, London, UK

    P. K. Thomas DSc, MD

Authors
  1. P. K. Thomas DSc, MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Thomas, P.K. Autonomic involvement in inherited neuropathies. Clinical Autonomic Research 2, 51–56 (1992). https://doi.org/10.1007/BF01824213

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01824213

Key words

Search

Navigation