title: [Neurologic diseases and chromosome 17].
abstract: On the short arm of the 17th chromosome is a peripheral myelin protein (PMP22) the duplication or point mutation of which causes the development of some congenital autosomal dominant hereditary demyelinization neuropathies: the most frequent variants of Charcot-Marie-Tooth disease (CMT1A), some cases of Déjérine-Sottas disease and microdeletion of PMP22 and hereditary pressure neuropathies. The pericentric section of the long arm of chromosome 17 comprises a locus conditioning the development of the most frequent phacomatosis-neurofibromatosis 1. As to rarer neuromuscular diseases, genome mutations of chromosome 17 condition the development of some cases of autosomal recessive forms of severe muscular dystrophy (SCARMD), a clinical analogue of Duchenne's form of muscular dystrophy, metabolic storage myopathy of Pompe's type and some muscle diseases associated with impaired function of the ion channels (hyperkalaemic periodic paralysis, congenital paramyotonia, some cases of malignant hyperthermia). Aspartoacylase deficiency, conditioning Canavan's leucodystrophy was also located in the area of the short arm of chromosome 17.
authors.affiliation: Neurologická klinika 1. LF UK a VFN, Praha.
authors.forename: S
authors.initials: S
authors.lastname: Nevsímalová
mesh_terms: D002886:Chromosomes, Human, Pair 17; D003711:Demyelinating Diseases / Q000235:genetics; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000235:genetics
vernacular_title: Neurologická onemocnĕní a chromozom c. 17.