Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers

G. L. Mancardi, M. Di Rocco, A. Schenone, E. Veneselli, M. Doria, M. Abbruzzese, M. Tabaton, C. Borrone

Research output: Contribution to journal › Article

15 Citations (Scopus)

Abstract

Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.

Original languageEnglish
Pages (from-to)121-130
Number of pages10
JournalJournal of the Neurological Sciences
Volume110
Issue number1-2
DOIs
Publication statusPublished - 1992

Fingerprint

Hereditary Sensory and Motor Neuropathy
Sural Nerve
Polyneuropathies
Deafness
Intellectual Disability
Hearing Loss
Atrophy
Biopsy
Growth

Keywords

  • Axonal atrophy
  • Deafness
  • Hereditary motor and sensory neuropathy
  • Mental retardation
  • Sural nerve biopsy

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

Cite this

Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. / Mancardi, G. L.; Di Rocco, M.; Schenone, A.; Veneselli, E.; Doria, M.; Abbruzzese, M.; Tabaton, M.; Borrone, C.

In: Journal of the Neurological Sciences, Vol. 110, No. 1-2, 1992, p. 121-130.

Research output: Contribution to journal › Article

Mancardi, GL, Di Rocco, M, Schenone, A, Veneselli, E, Doria, M, Abbruzzese, M, Tabaton, M & Borrone, C 1992, 'Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers', Journal of the Neurological Sciences, vol. 110, no. 1-2, pp. 121-130. https://doi.org/10.1016/0022-510X(92)90018-G
Mancardi GL, Di Rocco M, Schenone A, Veneselli E, Doria M, Abbruzzese M et al. Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. Journal of the Neurological Sciences. 1992;110(1-2):121-130. https://doi.org/10.1016/0022-510X(92)90018-G
Mancardi, G. L. ; Di Rocco, M. ; Schenone, A. ; Veneselli, E. ; Doria, M. ; Abbruzzese, M. ; Tabaton, M. ; Borrone, C. / Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. In: Journal of the Neurological Sciences. 1992 ; Vol. 110, No. 1-2. pp. 121-130.
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AU - Doria, M.

AU - Abbruzzese, M.

AU - Tabaton, M.

AU - Borrone, C.

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KW - Sural nerve biopsy

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