A wide spectrum of HMSN

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Rinsho Shinkeigaku. 2009 Nov;49(11):950-2.

A wide spectrum of hereditary motor sensory neuropathy (HMSN)

Nakagawa M.

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural

University of Medicine.

Hereditary neuropathies are classified into HMSN/Charcot-Marie-Tooth disease

(CMT), familial amyloid polyneuropathy (FAP), hereditary motor neuropathies

(HMN) and hereditary sensory (and autonomic) neuropathies (HSAN). The clinical

features of HMSN are generally characterized as distal dominant motor and

sensory involvements. However, we have reported a novel HMSN with proximal

dominancy (HMSN-P) originated in Okinawa and Shiga prefectures, Japan. The gene

locus is located in the centromere region of chromosome 3.

In 2008, a new family with the HMSN-P was reported from Brazilians of Japanese

ancestry. This Brazilian family was initially diagnosed as having " a familial

ALS " . The HMSN-P linked to ch.3 is not limited in Japan, but may be present in

the worldwide. The overseas scientific research for the elucidation of the

mechanism of HMSN-P supported by JSPS KAKENHI (21406026) is planning.

Recently several other types of HMSN-P have been reported; HMSN-P with urinary

disturbance and paroxysmal dry cough, a patient with both CMT 1A and mild spinal

muscular atrophy and CMT1A with severe paresis of the proximal lower limb

muscles. Therefore the clinical concept of HMSN is not limited as the disease

with distal dominant motor sensory involvement. HMSN has the wider spectrum from

distal to proximal and motor/sensory to autonomic neuropathies.