Hereditary motor and sensory neuropathy type VI with optic atrophy

Irene Voo, Bryan E. Allf, Nitin Udar, Rosamaria Silva-Garcia, Jeffrey Vance, Kent W. Small

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

PURPOSE: To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy. DESIGN: Observational case series. METHODS: A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. RESULTS: Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. CONCLUSIONS: This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.

Original languageEnglish (US)
Pages (from-to)670-677
Number of pages8
JournalAmerican journal of ophthalmology
Volume136
Issue number4
DOIs
StatePublished - Oct 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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