Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.
Hereditary neuralgic amyotrophy (HNA), an autosomal dominant disorder associated with SEPT9 mutation located on chromosome 17q25, causes recurrent painful weakness with sensory disturbances in a brachial distribution. We present electrophysiological, clinical phenotype, and molecular genetic data of three members from a family with HNA with the C262T SEPT9 mutation. The degree of motor weakness and recovery is variable within this family. Severity and recovery from motor deficits may have been a function of comorbid medical conditions. To our knowledge, this is the first report to confirm SEPT9 mutation in a family with suspected HNA.
Hoque
Romy
R
Department of Neurology, Louisiana State University Health Sciences Center, Shreveport, LA 71104, USA. rhoque@lsuhsc.edu
Schwendimann
Robert N
RN
Kelley
Roger E
RE
Bien-Willner
Ricardo
R
Sivakumar
Kumaraswamy
K
D001917:Brachial Plexus / Q000503:physiopathology; D020968:Brachial Plexus Neuritis / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D014644:Genetic Variation; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020127:Recovery of Function / Q000235:genetics*; D012075:Remission, Spontaneous; D058112:Septins
D020558:GTP Phosphohydrolases; C474315:SEPTIN9 protein, human; D058112:Septins