title: Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.
abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease characterized by recurrent episodes of acute nerve palsies. We performed a clinical, electrophysiologic, and molecular study of 13 French families with HNPP associated with a chromosome 17p11.2 deletion in 36 individuals. There were electrophysiologic abnormalities in all symptomatic (n = 28) and asymptomatic (n = 8) deletion carriers, even in childhood. Bilateral delayed distal motor latency of the median nerve at the wrist, reduced sensory velocity in the palm-wrist segment, and delayed distal motor latency or reduced motor velocity in the peroneal nerve was diagnostic in at-risk relatives. This large series confirms the reliability of molecular analysis combined with a simplified electrophysiologic examination for the diagnosis of HNPP associated with 17p11.2 deletion.
authors.affiliation: INSERM U289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Gouider
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
authors.forename: M
authors.initials: M
authors.lastname: Gugenheim
authors.forename: S
authors.initials: S
authors.lastname: Tardieu
authors.forename: T
authors.initials: T
authors.lastname: Maisonobe
authors.forename: J M
authors.initials: JM
authors.lastname: Léger
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: P
authors.initials: P
authors.lastname: Bouche
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree