An additional family carrying a new atlastin mutation

A. Tessa, C. Casali, M. Damiano, C. Bruno, D. Fortini, C. Patrono, F. Cricchi, M. Valoppi, G. Nappi, G. A. Amabile, E. Bertini, F. M. Santorelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2002-2005
Number of pages4
JournalNeurology
Volume59
Issue number12
Publication statusPublished - Dec 24 2002

ASJC Scopus subject areas

  • Neuroscience(all)

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