title: [Two cases of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].
abstract: We, herein, report two independent cases with hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) inherited in an autosomal dominant fashion. Their common clinical features are slowly progressive proximal dominant muscular atrophy, fasciculations and mild to moderate distal sensory disturbance with areflexia. Nerve conduction study revealed an absence of sensory nerve action potentials, in contrast to almost normal compound muscle action potentials. Gene analysis in both patients elucidated heterozygous mutation (c.854C>T, p.Pro285Leu) in the TFG, which is an identical mutation, already described by Ishiura et al. Okinawa and Shiga are two foci of HMSN-P in Japan. Eventually, one patient is from Okinawa and the other is from a mountain village in Shiga prefecture. When we see a patient who has symptoms suggestive of motor neuron disease with sensory neuropathy, HMSN-P should be considered as a differential diagnosis despite the patient's actual resident place.
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital.
authors.forename: Chiaki
authors.initials: C
authors.lastname: Mori
authors.forename: Tomoko
authors.initials: T
authors.lastname: Saito
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.forename: Saburo
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged