title: Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.
abstract: Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominantly inherited recurrent focal neuropathy affecting mainly the brachial plexus. Linkage to markers on chromosome 17q25 was found in 1996 and subsequent reports confirmed linkage of HNA to this locus. Recently a family with a chronic undulating rather than remitting-relapsing clinical course of HNA was described by a Dutch group. This family did not have linkage to the 17q25 locus. Here we describe for the first time clinically and genetically two families with classic remitting-relapsing HNA that are not linked to the previously described HNA locus on chromosome 17q25. These results demonstrate that clinically homogeneous classical HNA is genetically heterogeneous.
authors.affiliation: Department of Neurology, Westfälische Wilhelms University, Münster, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Kuhlenbäumer
authors.forename: J
authors.initials: J
authors.lastname: Meuleman
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: B
authors.initials: B
authors.lastname: Falck
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: G
authors.initials: G
authors.lastname: Hünermund
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: F
authors.initials: F
authors.lastname: Stögbauer
mesh_terms: D000328:Adult; D020968:Brachial Plexus Neuritis / Q000235:genetics* / Q000503:physiopathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004247:DNA / Q000032:analysis / Q000235:genetics; D004576:Electromyography; D005260:Female; D005387:Finland; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D004247:DNA