Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: Confirmation of a new entity

M. Sabatelli, T. Mignogna, G. Lippi, S. Servidei, M. Zollino, L. Padua, M. Lo Monaco, L. De Armas, M. L. Mereu, P. Tonali

Research output: Contribution to journalArticlepeer-review

Abstract

We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. We suggest that motorsensory neuropathy associated with deafness and mental retardation with absence of large myelinated fibers on sural nerve biopsy represents a distinct clinicopathological entity, which is transmitted in families probably as an autosomal recessive trait.

Original languageEnglish
Pages (from-to)309-313
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume75
Issue number3
DOIs
Publication statusPublished - Jan 23 1998

Keywords

  • Hereditary motorsensory neuropathy
  • Mental retardation
  • Sensorineural deafness

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: Confirmation of a new entity'. Together they form a unique fingerprint.

Cite this