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

doi:10.1016/0022-510X(92)90018-G

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article

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 language	English
Pages (from-to)	121-130
Number of pages	10
Journal	Journal of the Neurological Sciences
Volume	110
Issue number	1-2
DOIs	https://doi.org/10.1016/0022-510X(92)90018-G
Publication status	Published - 1992

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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

Mancardi, G. L., 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, 110(1-2), 121-130. https://doi.org/10.1016/0022-510X(92)90018-G

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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.",

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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

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