Distal hereditary motor neuropathy type II with mutation in heat shock protein 2

[Guest guest]

Rinsho Shinkeigaku. 2007 Jan;47(1):50-2.

Distal hereditary motor neuropathy type II with mutation in heat

shock protein 27 gene. A case report

Nishibayashi M, Kokubun N, Nakamura A, Hirata K, Yamamoto M, Sobue

G.

Department of Neurology, Dokkyo Medical University.

A 48-year-old man was admitted to our hospital with a tendency to

stumble during walking. The family history indicated that the father

was diagnosed with Charcot-Marie-Tooth disease (CMT) at the age of

55 and his younger sister (aunt) had similar symptoms that were

considered to reflect autosomal dominant inheritance.

Examination showed no pes cavus or inverted champagne-bottle thighs.

In addition, the patient walked with foot drop due to weakness and

atrophy of the distal parts of the lower extremities. Sensory

examination revealed no deficits or abnormalities. Nerve conduction

study and needle electromyography indicated pure motor axonal

neuropathy.

The diagnosis of distal hereditary motor neuropathy (distal HMN)

type II was made. Genetic analysis detected mutation in the heat

shock protein 27 (HSP27) gene. A recent report indicated that

mutations in the HSP27 gene cause both distal hereditary motor

neuropathy and CMT2F.

In Japan, there are only a few reports of distal hereditary motor

neuropathy with mutation in the HSP27 gene. Distal HMN should be

considered in the differential diagnosis of patients with CMT like

distal amyotrophy.