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 journalArticle

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 journalArticle

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.
@article{54d88a0a196446ecbe881cbc8e8760b9,
title = "Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers",
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.",
keywords = "Axonal atrophy, Deafness, Hereditary motor and sensory neuropathy, Mental retardation, Sural nerve biopsy",
author = "Mancardi, {G. L.} and {Di Rocco}, M. and A. Schenone and E. Veneselli and M. Doria and M. Abbruzzese and M. Tabaton and C. Borrone",
year = "1992",
doi = "10.1016/0022-510X(92)90018-G",
language = "English",
volume = "110",
pages = "121--130",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers

AU - Mancardi, G. L.

AU - Di Rocco, M.

AU - Schenone, A.

AU - Veneselli, E.

AU - Doria, M.

AU - Abbruzzese, M.

AU - Tabaton, M.

AU - Borrone, C.

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - Axonal atrophy

KW - Deafness

KW - Hereditary motor and sensory neuropathy

KW - Mental retardation

KW - Sural nerve biopsy

UR - http://www.scopus.com/inward/record.url?scp=0026631333&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026631333&partnerID=8YFLogxK

U2 - 10.1016/0022-510X(92)90018-G

DO - 10.1016/0022-510X(92)90018-G

M3 - Article

VL - 110

SP - 121

EP - 130

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1-2

ER -