title: Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
abstract: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
authors.affiliation: Department of Neurology, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. gkuhlen@uni-muenster.de
authors.forename: Gregor
authors.initials: G
authors.lastname: Kuhlenbäumer
authors.forename: Mark C
authors.initials: MC
authors.lastname: Hannibal
authors.forename: Eva
authors.initials: E
authors.lastname: Nelis
authors.forename: Anja
authors.initials: A
authors.lastname: Schirmacher
authors.forename: Nathalie
authors.initials: N
authors.lastname: Verpoorten
authors.forename: Jan
authors.initials: J
authors.lastname: Meuleman
authors.forename: Giles D J
authors.initials: GD
authors.lastname: Watts
authors.forename: Els
authors.initials: E
authors.lastname: De Vriendt
authors.forename: Peter
authors.initials: P
authors.lastname: Young
authors.forename: Florian
authors.initials: F
authors.lastname: Stögbauer
authors.forename: Hartmut
authors.initials: H
authors.lastname: Halfter
authors.forename: Joy
authors.initials: J
authors.lastname: Irobi
authors.forename: Dirk
authors.initials: D
authors.lastname: Goossens
authors.forename: Jurgen
authors.initials: J
authors.lastname: Del-Favero
authors.forename: Benjamin G
authors.initials: BG
authors.lastname: Betz
authors.forename: Hyun
authors.initials: H
authors.lastname: Hor
authors.forename: Gert
authors.initials: G
authors.lastname: Kurlemann
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Bird
authors.forename: Eila
authors.initials: E
authors.lastname: Airaksinen
authors.forename: Tarja
authors.initials: T
authors.lastname: Mononen
authors.forename: Adolfo Pou
authors.initials: AP
authors.lastname: Serradell
authors.forename: José M
authors.initials: JM
authors.lastname: Prats
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
authors.forename: E Bernd
authors.initials: EB
authors.lastname: Ringelstein
authors.forename: Phillip F
authors.initials: PF
authors.lastname: Chance
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004285:Dogs; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D051381:Rats; D058112:Septins
chemical_list: D020558:GTP Phosphohydrolases; C474315:SEPTIN9 protein, human; D058112:Septins