HSMN/CMT Type 6 Research from UCLA/Los Angeles

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Abstract from the American Journal of Ophthalmology 2003

Oct;136(4):670-7.

(HSMN is also known as CMT)

Hereditary motor and sensory neuropathy type VI with optic atrophy.

Voo I, Allf BE, Udar N, Silva- R, Vance J, Small KW.

Department of Ophthalmology, UCLA School of Medicine, Jules Stein Eye

Institute, (I.V., B.E.A., N.U., R.S.-G., K.W.S.), Los Angeles,

California, USA

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.Observational case series.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.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.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.