Hereditary motor and enory neuropathy type VI with optic atrophy

Purpoe To preent the detailed clinical finding of a large family with hereditary motor and enory neuropathy type VI (HMN VI), a yndrome featuring optic atrophy. Deign Obervational cae erie. Method A detailed hitory wa obtained and phyical examination wa made of the extended family of the proband for evidence of neurologic dyfunction. The OPA1 gene wa creened for mutation by direct DNA equencing. Reult Twelve of 97 family member examined are affected with ign of HMN VI. Three other member have either optic atrophy or peripheral neuropathy, thu allowing an appreciation of the full clinical pectrum of dieae. No mutation were found in the OPA1 gene. Concluion Thi family demontrate the variable expreivity of thi diorder a well a incomplete penetrance. Thi i the larget known family with HMN VI. No aociation wa found with change in the OPA1 gene.