This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Bien-Willner, R. Articles by Sivakumar, K. Search for Related Content PubMed PubMed Citation Articles by Bien-Willner, R. Articles by Sivakumar, K. Social Bookmarking                   What's this?

Childhood-Onset Spastic Paraplegia With NIPA1 Gene Mutation

Barrow Neurological Institute, Phoenix, AZ

Nyamkhishig Sambuughin, PhD

Barrow Neurological Institute, Phoenix, AZ

Heather Holley, BSc

Barrow Neurological Institute, Phoenix, AZ

John Bodensteiner, MD

Barrow Neurological Institute, Phoenix, AZ

Kumaraswamy Sivakumar, MD

Barrow Neurological Institute, Phoenix, AZ, ksivakumar{at}chw.edu

Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot. (J Child Neurol 2006;21:974—977; DOI 10.2310/ 7010.2006.00236).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?