title: Clinical features and molecular genetics of hereditary peripheral neuropathies.
abstract: Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) alone is estimated to be as high as 1/5000. In 1991, a duplication on chromosome 17p11.2 was identified as the causative genetic defect of CMT1A. Since then causative mutations in 17 genes have been identified. This review summarises the clinical and molecular genetic features of primary inherited neuropathies. It is aimed primarily at clinicians and geneticists. Therefore less emphasis is placed on the pathology and the (often unknown) underlying biological disease mechanisms.
authors.affiliation: Department of Neurology, University of Münster, Albert-Schweitzer-Str 33, 48129 Münster, Germany. gkuhlen@uni-muenster.de
authors.forename: Gregor
authors.initials: G
authors.lastname: Kuhlenbäumer
authors.forename: Peter
authors.initials: P
authors.lastname: Young
authors.forename: Gert
authors.initials: G
authors.lastname: Hünermund
authors.forename: Bernd
authors.initials: B
authors.lastname: Ringelstein
authors.forename: Florian
authors.initials: F
authors.lastname: Stögbauer
mesh_terms: D000818:Animals; D030342:Genetic Diseases, Inborn; D006801:Humans; D008967:Molecular Biology; D009154:Mutation / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*