SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Heema Patel, Harold Cross, Christos Proukakis, Ruth Hershberger, Peer Bork, Francesca D. Ciccarelli, Michael A. Patton, Victor A. McKusick, Andrew H. Crosby

Research output: Contribution to journalArticlepeer-review

217 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)347-348
Number of pages2
JournalNature Genetics
Issue number4
StatePublished - Aug 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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