title: Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
abstract: Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.
authors.affiliation: Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: Verhalle
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: I
authors.initials: I
authors.lastname: Dehaene
authors.forename: P
authors.initials: P
authors.lastname: Theys
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: R
authors.initials: R
authors.lastname: Dom
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: W
authors.initials: W
authors.lastname: Robberecht
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000032:analysis; D004594:Electrophysiology / Q000379:methods; D005260:Female; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction; D010375:Pedigree; D010543:Peroneal Nerve / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D014459:Ulnar Nerve / Q000503:physiopathology
chemical_list: D005819:Genetic Markers; D004247:DNA