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J Clin Neuromuscul Dis. 2008 Jun;9(4):379-84. doi: 10.1097/CND.0b013e318166ee89.

Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.

Author information

1
Department of Neurology, Louisiana State University Health Sciences Center, Shreveport, LA 71104, USA. rhoque@lsuhsc.edu

Abstract

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.

PMID:
18525421
DOI:
10.1097/CND.0b013e318166ee89
[Indexed for MEDLINE]

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