title: [Genetics of neuropathies].
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.
authors: Klinik für Neurologie, Sektion für Schlafmedizin und ambulante Neurologie, Universitätsklinikum Münster, Albert-Schweitzer Campus 1, Gebäude A1, 48149, Münster, Deutschland. burkhard.gess@gmail.com
authors: B
authors: B
authors: Gess
authors: A
authors: A
authors: Schirmacher
authors: P
authors: P
authors: Young
mesh_terms: D000465:Algorithms; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D003430:Cross-Sectional Studies; D004185:Disability Evaluation; D005820:Genetic Testing; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D009422:Nervous System Diseases / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D009460:Neurologic Examination; D011115:Polyneuropathies / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011379:Prognosis