Case Reports
doi: 10.1212/01.wnl.0000036902.21438.98.
SPG3A: An additional family carrying a new atlastin mutation
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- PMID: 12499504
- DOI: 10.1212/01.wnl.0000036902.21438.98
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Case Reports
SPG3A: An additional family carrying a new atlastin mutation
Neurology.
.
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.
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