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- Title
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
- Authors
Patel, Heema; Cross, Harold; Proukakis, Christos; Hershberger, Ruth; Bork, Peer; Ciccarelli, Francesca D; Patton, Michael A; McKusick, Victor A; Crosby, Andrew H
- Abstract
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
- Publication
Nature genetics, 2002, Vol 31, Issue 4, p347
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng937