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SPG3A: An additional family carrying a new atlastin mutation.

Authors :
Tessa A
Casali C
Damiano M
Bruno C
Fortini D
Patrono C
Cricchi F
Valoppi M
Nappi G
Amabile GA
Bertini E
Santorelli FM
Source :
Neurology [Neurology] 2002 Dec 24; Vol. 59 (12), pp. 2002-5.
Publication Year :
2002

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.

Details

Language :
English
ISSN :
0028-3878
Volume :
59
Issue :
12
Database :
MEDLINE
Journal :
Neurology
Publication Type :
Academic Journal
Accession number :
12499504
Full Text :
https://doi.org/10.1212/01.wnl.0000036902.21438.98