Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by unspecific infections or immunization, or are associated with parturition. Minor facial dysmorphic features are present in some pedigrees but do not clearly segregate with the disease. To confirm the recently described HNA locus on distal chromosome 17q, we performed a genetic linkage study in an extended Turkish pedigree. We were able to refine the HNA locus on chromosome 17q24-q25 in a 16-cM region.
Stögbauer
F
F
Department of Neurology, University Hospital of Münster, Germany.
Young
P
P
Timmerman
V
V
Spoelders
P
P
Ringelstein
E B
EB
Van Broeckhoven
C
C
Kurlemann
G
G
D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D017931:DNA Primers; D018900:Dinucleotide Repeats; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D005858:Germany; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014421:Turkey / Q000208:ethnology
D017931:DNA Primers; D005819:Genetic Markers