Pathomorphology of hereditary sensory neuropathies

  • H. H. Goebel
  • U. E. Horn
  • J. Bohl
Conference paper


Currently, the hereditary sensory neuropathies (HSN) — because of the involvement of the autonomic system recently called HSAN — comprise types I–V predicated on clinical differences. This classification of HSAN I–V seems to be uncontested, at the present time. Morphologically, individual forms I–V only differ in the non-specific loss or lack of myelinated and unmyelinated nerves in varying degrees in that in HSAN II large myelinated axons are most affected, in HSAN IV unmyelinated axons are almost absent; but each HSAN is considered an axonal type of neuropathy. Early onset, slow or no progression of the neuropathic process, and little or no evidence of ongoing degeneration suggest maldevelopment of sensory and autonomic components of the peripheral nervous system in certain HSAN. A combined approach by biopsy to peripheral nerves and skin in HSN/HSAN may improve clinico-pathological correlations and is highly recommended to the investigative neuropathologist. Finally, only molecular-genetic data may provide an ultimate nosological classification of the HSN/HSAN.


Fabry Disease Sural Nerve Sensory Neuropathy Myelinated Axon Unmyelinated Axon 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Aguayo AJ, Nair CPV, Bray GM (1971) Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy. Arch Neurol 24: 106–116PubMedCrossRefGoogle Scholar
  2. 2.
    Asbury AK, Cox SC, Baringer JR (1971) The significance of giant vacuolation of endoneurial fibroblasts. Acta Neuropathol (Berl) 18: 123–131CrossRefGoogle Scholar
  3. 3.
    Asbury AK, Johnson PC (1978) Pathology of peripheral nerve. Saunders: PhiladelphiaGoogle Scholar
  4. 4.
    Cavanagh NPC, Eames RA, Galvin RJ, Brett EM, Kelly RE (1979) Hereditary sensory neuropathy with spastic paraplegia. Brain 102: 79–94PubMedCrossRefGoogle Scholar
  5. 5.
    Denny-Brown D (1951) Hereditary sensory radicular neuropathy. J Neurol Neurosurg Psychiatry 14: 237–252PubMedCrossRefGoogle Scholar
  6. 6.
    Dyck PJ, Lambert EH (1969) Dissociated sensation in amyloidosis. Arch Neurol 20: 490–507PubMedCrossRefGoogle Scholar
  7. 7.
    Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH (1983) Not “indifference to pain” but varieties of hereditary sensory and autonomic neuropathy. Brain 106: 373–390PubMedCrossRefGoogle Scholar
  8. 8.
    Dyck PJ (1984) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds) Peripheral neuropathy, 2nd edn. Saunders: Philadelphia, pp 1557–1599Google Scholar
  9. 9.
    Ermel AE, Devooght H, Carton H (1979) Clinical and ultrastructural study of a sporadic case of hereditary sensory neuropathy. J Neurol 220: 241–249PubMedCrossRefGoogle Scholar
  10. 10.
    Giaccai L (1952) Familial and sporadic neurogenic acro-osteolysis. Acta Radiologica 38: 17–29PubMedCrossRefGoogle Scholar
  11. 11.
    Goebel HH, Veit S, Dyck PJ (1980) Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 39: 670–675PubMedCrossRefGoogle Scholar
  12. 12.
    Guimaraes A, Hauw JJ, Escourolle R (1979) Etude quantitative et en microscopic electronique du nerf dans sept cas de neuropathie sensitive idiopathique sporadique. Acta Neuropathol (Berl) 46: 133–137CrossRefGoogle Scholar
  13. 13.
    Horoupian DS (1989) Hereditary sensory neuropathy with deafness: a familial multisystem atrophy. Neurology 39: 244–248PubMedCrossRefGoogle Scholar
  14. 14.
    Jestico JV, Urry PA, Efphimiou J (1985) An hereditary sensory and autonomic neuropathy transmitted as an X-linked recessive trait. J Neurol Neurosurg Psychiatry 48: 1259–1264PubMedCrossRefGoogle Scholar
  15. 15.
    Langer J, Goebel HH, Veit S (1981) Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. Acta Neuropathol (Berl) 54: 199–202CrossRefGoogle Scholar
  16. 16.
    Matsuo M, Kurokawa T, Goya N, Ohta M (1981) Congenital insensitivity to pain with anhidrosis in a 2-month-old boy. Neurology 31: 1190–1192PubMedGoogle Scholar
  17. 17.
    Murray TJ (1973) Congenital sensory neuropathy. Brain 96: 387–394PubMedCrossRefGoogle Scholar
  18. 18.
    Nordborg C, Conradi N, Sourander P, Westerberg B (1981) A new type of non-progressive sensory neuropathy in children with atypical dysautonomia. Acta Neuropathol (Berl) 55: 135–141CrossRefGoogle Scholar
  19. 19.
    Ohnishi A, Dyck PJ (1974) Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol 31: 120–127CrossRefGoogle Scholar
  20. 20.
    Ohta M, Ellefson RD, Lambert EH, Dyck PJ (1973) Hereditary sensory neuropathy, type II. Arch Neurol 29: 23–37CrossRefGoogle Scholar
  21. 21.
    Pearson J, Finegold MJ, Budzilovich G (1970) The tongue and taste in familial dysautonomia. Pediatrics 45: 739–745PubMedGoogle Scholar
  22. 22.
    Pearson J, Axelrod F, Dancis J (1974) Current concepts of dysautonomia: neuro-pathological defects. Ann NY Acad Sci 228: 288–300PubMedCrossRefGoogle Scholar
  23. 23.
    Pearson J, Dancis J, Axelrod F, Grover N (1975) The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol 34: 413–424PubMedCrossRefGoogle Scholar
  24. 24.
    Schoene WC, Asbury AK, Åström KE, Masters R (1970) Hereditary sensory neuropathy. J Neurol Sci 11: 463–487PubMedCrossRefGoogle Scholar
  25. 25.
    Störkel S, Bohl J, Lohr J, Nix W (1984) Morphologische Befunde beim Giaccai-Syndrom — ein Fallbericht. Verh Dtsch Ges Pathol 68: 421Google Scholar
  26. 26.
    Vital C, Vallat JM (1987) Ultrastructural study of the human diseased peripheral nerve, 2nd edn. Elsevier: New YorkGoogle Scholar
  27. 27.
    Vital A, Vital C, Coquet M, Hernandorena X, Demarquez JM (1989) Congenital hypo-myelination with axonopathy. Eur J Pediatr 148: 470–472PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Wien 1995

Authors and Affiliations

  • H. H. Goebel
    • 1
  • U. E. Horn
    • 1
  • J. Bohl
    • 1
  1. 1.Division of NeuropathologyUniversity of MainzMainzGermany

Personalised recommendations