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Ann Neurol. 2007 Jun;61(6):599-603.

Characterization of a novel SPG3A deletion in a French-Canadian family.

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  • 1Center for the Study of Brain Diseases, Centre Hospitalier de l'Université de Montréal Research Center-Notre-Dame Hospital, University of Montreal, Québec, Canada.

Abstract

Hereditary spastic paraplegias (HSPs) are characterized by progressive lower limb spasticity and weakness. Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most common cause of autosomal dominant hereditary spastic paraplegia. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified. Characterization of this deletion showed that it affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. Interestingly, immunoblot analysis of lymphoblasts from affected patients demonstrated a significant reduction in atlastin protein levels, supporting a loss-of-function disease mechanism.

PMID:
17427918
[PubMed - indexed for MEDLINE]
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