Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness

We report the clinical and electrophysiological features of six members of a French family with a dominantly inherited motor and sensory neuropathy. M ean age at onset was 33.6 +/- 9.1 years. Mean age at examination was 55.5 /- 13.3 years. Clinical presentation combined symptoms of hereditary sensor y and autonomic neuropathy type I (HSAN-I) with prominent distal muscle wea kness. Five male patients presented with sensory symptoms involving the dis tal part of the limbs, especially the legs. All but one had histories of tr ophic alterations, consisting of poorly healing foot ulcers. Muscle weaknes s and wasting were always present, often severe, and mainly affected dorsif lexion of the toes and feet. One obligate female carrier aged 65 was clinic ally asymptomatic. Electrophysiological findings were consistent with a dis tal axonal motor and sensory neuropathy. Results of linkage analysis exclud ed the Charcot-Marie-Tooth 2A (CMT2A) and CMT2B loci and suggested the poss ibility of a linkage to HSAN-I locus on 9q22.1-q22.3. (C) 2000 John Wiley & Sons, Inc.