Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

被引：14

作者：

Berghoff, C

Berghoff, M

Leal, A

Morera, B

Barrantes, R

Reis, A

Neundörfer, B

Rautenstrauss, B

Del Valle, G

Heuss, D ^{[1
]}

机构：

[1] Univ Erlangen Nurnberg, Dept Neurol, D-8520 Erlangen, Germany

[2] Univ Costa Rica, Inst Hlth Res INISA, San Jose, Costa Rica

[3] Univ Costa Rica, Sch Biol, San Jose, Costa Rica

[4] Neurolab, Neurophysiol Lab, San Jose, Costa Rica

来源：

NEUROMUSCULAR DISORDERS | 2004年 / 14卷 / 05期

关键词：

hereditary neuropathy; axonal degeneration; Charcot-Marie-Tooth disease; autosomal recessive;

D O I：

10.1016/j.nmd.2004.02.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. Eight patients of a large consanguineous family of Spanish ancestry in Costa Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and electrophysiological features of these patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was between 26 and 42 years, and the disease duration ranged from 2 to 19 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2. (C) 2004 Published by Elsevier B.V.

引用

页码：301 / 306

页数：6

共 26 条

[1] Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3 [J].