Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

[neuralgic amyotrophy]

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 (SEPT 9 ) in six families with HNA linked to chromosome 17 q 25 . 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 .