title: Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
abstract: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy. HNA is characterised by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by non-specific infections, immunisations or parturition. Mild dysmorphic features and short stature are present in some HNA families, but absolute co-segregation with HNA has not been described. To refine the previously described HNA locus on chromosome 17q25, we performed a genetic linkage study in five HNA families with different geographic origins. Significant linkage was obtained with chromosome 17q24-q25 short tandem repeat (STR) markers in three HNA families and suggestive linkage was found in the other two HNA families. Analysis of the informative recombinations in affected individuals allowed us to reduce the HNA linkage interval to a candidate region of 3.5 cM.
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, Department of Biochemistry, University of Antwerp, Antwerpen, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Meulemann
authors.forename: G
authors.initials: G
authors.lastname: Kuhlenbäumer
authors.forename: A
authors.initials: A
authors.lastname: Schirmacher
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: E
authors.initials: E
authors.lastname: De Vriendt
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: E
authors.initials: E
authors.lastname: Airaksinen
authors.forename: A
authors.initials: A
authors.lastname: Pou-Serradell
authors.forename: J M
authors.initials: JM
authors.lastname: Prats
authors.forename: B
authors.initials: B
authors.lastname: Ringelstein
authors.forename: F
authors.initials: F
authors.lastname: Stögbauer
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
mesh_terms: D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D019683:Penetrance
chemical_list: D005819:Genetic Markers