Genetics of neuropathies

被引：4

作者：

Gess, B. ^{[1
]}

Schirmacher, A. ^{[1
]}

Young, P. ^{[1
]}

机构：

[1] Univ Klinikum Munster, Neurol Klin, Sekt Schlafmed & Ambulante Neurol, D-48149 Munster, Germany

来源：

NERVENARZT | 2013年 / 84卷 / 02期

关键词：

Hereditary motor and sensory neuropathies; Acquired polyneuropathy; Charcot-Marie-Tooth disease; Genetics; Gene diagnostic algorithm; MARIE-TOOTH-DISEASE; DIFFERENTIATION-ASSOCIATED PROTEIN-1; SPINAL MUSCULAR-ATROPHY; TRANSFER-RNA SYNTHETASE; SENSORY NEUROPATHY; HEREDITARY MOTOR; EXCHANGE FACTOR; POINT MUTATION; DISORDER; TYPE-1A;

D O I：

10.1007/s00115-012-3640-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.

引用

页码：157 / 165

页数：9

共 74 条

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