Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies

被引:12
|
作者
Benstead, TJ
Grant, IA
机构
[1] QEII Hlth Sci Ctr, Div Neurol, Halifax, NS B3H 3A7, Canada
[2] Dalhousie Univ, Sch Med, Halifax, NS, Canada
关键词
D O I
10.1017/S0317167100001347
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.
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收藏
页码:199 / 214
页数:16
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