title: Hereditary neuropathy with liability to pressure palsies: distinguishing clinical and electrophysiological features among patients with multiple entrapment neuropathy.
abstract: Hereditary neuropathy with liability to pressure palsies is caused by deletion of the PMP-22 gene. As its relatively mild symptoms may escape detection by clinical examination alone, we screened the gene in patients with multiple entrapment neuropathy (MEN) that had been diagnosed by nerve conduction studies (NCS). Two of the eight patients with MEN had deletion of the gene. The characteristic features that distinguished them from the other MEN patients were predominantly sensory deficits associated with mild weakness and subclinical polyneuropathy as detected by NCS.
authors.affiliation: Department of Neurology, Kyoto University School of Medicine, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Hirota
authors.forename: R
authors.initials: R
authors.lastname: Kaji
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
authors.forename: T
authors.initials: T
authors.lastname: Yanagihara
authors.forename: J
authors.initials: J
authors.lastname: Kimura
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000172:deficiency* / Q000235:genetics; D009408:Nerve Compression Syndromes / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D010292:Paresthesia / Q000209:etiology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human