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. 2002 May 31;325(1):57-61.
doi: 10.1016/s0304-3940(02)00239-2.

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

Mitsuya Morita  1 , Mac Ho, Betsy A Hosler, Diane McKenna-Yasek, Robert H Brown Jr
Affiliations

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

Mitsuya Morita et al. Neurosci Lett. .

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.

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