Distal hereditary motor neuropathy in Korean patients with a small heat shock pr

[Guest guest]

http://koreamed.org/SearchBasic.php?RID=0061EMM%2F2008.40.3.304 & DT=1 & QY=%22Charc\

ot-Marie-Tooth+disease%22+[KW]

Department of Biological Science, Kongju National University, Gongju 314-701,

Korea.

Department of Neurology, Kyung Hee University, East-West Neo Medical Center,

Seoul 134-727, Korea.

Department of Neurology, Ewha Medical Research Center, Ewha Womans University,

School of Medicine, Seoul 158-710, Korea.

Department of Radiology, Ewha Medical Research Center, Ewha Womans University,

School of Medicine, Seoul 158-710, Korea.

Abstract

Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder

characterized by degeneration of motor nerves in the absence of sensory

abnormalities. Recently, mutations in the small heat shock protein 27 (HSP27)

gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F

(CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a

large Korean dHMN type II family with the Ser135Phe mutation in HSP27. This

mutation was inherited in an autosomal dominant manner, and was well associated

with familial members with the dHMN phenotype. This mutation site is located in

the ?-crystallin domain and is highly conserved between different species.

The frequency of this HSP27 mutation in Koreans was 0.6%. Magnetic resonance

imaging analysis revealed that fatty infiltrations tended to progressively

extend distal to proximal muscles in lower extremities. In addition, fatty

infiltrations in thigh muscles progressed to affect posterior and anterior

compartments but to lesser extents in medial compartment, which differs from

CMT1A patients presenting with severe involvements of posterior and medial

compartments but less involvement of anterior compartment. The authors describe

the clinical and neuroimaging findings of the first Korean dHMN patients with

the HSP27 Ser135Phe mutation. To our knowledge, this is the first report of the

neuroimaging findings of dHMN type II.