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[Genetics of neuropathies].

Authors :
Gess B
Schirmacher A
Young P
Source :
Der Nervenarzt [Nervenarzt] 2013 Feb; Vol. 84 (2), pp. 157-65.
Publication Year :
2013

Abstract

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.

Details

Language :
German
ISSN :
1433-0407
Volume :
84
Issue :
2
Database :
MEDLINE
Journal :
Der Nervenarzt
Publication Type :
Academic Journal
Accession number :
23325310
Full Text :
https://doi.org/10.1007/s00115-012-3640-4