Neurosci Lett. 2002 May 31;325(1):57-61.

A novel mutation in the spastin gene in a family with spastic paraplegia.

Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr.

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Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA. morita-jci@umin.ac.jp

Abstract

Hereditary spastic paraplegia (HSP) is a degenerative neuromuscular disease characterized by progressive lower extremity weakness, spasticity and hyperreflexia. Inheritance of HSP is commonly autosomal dominant, spastin was identified as the defective gene in chromosome 2p-linked autosomal dominant hereditary spastic paraplegia (AD-HSP). In a large American family with AD-HSP, we have identified a novel spastin mutation at a splice-acceptor site in intron 6 (1130-1 g--> a) and detected a corresponding aberrant transcript generated from a cryptic splice site. This is predicted to cause a frameshift and premature truncation of the abnormal spastin protein. Our data are the first to confirm that a mutation in an acceptor site in the spastin gene results in activation of a cryptic acceptor site and a translational frameshift. The clinical phenotype of this pedigree is also discussed.

PMID:: 12023066; [PubMed - indexed for MEDLINE]

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A novel mutation in the spastin gene in a family with spastic paraplegia.

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