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Neurology. 2002 Dec 24;59(12):2002-5.

SPG3A: An additional family carrying a new atlastin mutation.

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  • 1Molecular Medicine and Neurology, IRCCS-Bambino GesĂș Hospital, Rome, Italy.

Abstract

The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.

PMID:
12499504
[PubMed - indexed for MEDLINE]
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