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 journalArticle

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.

Original languageEnglish
Pages (from-to)347-348
Number of pages2
JournalNature Genetics
Volume31
Issue number4
DOIs
Publication statusPublished - Aug 1 2002

    Fingerprint

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., & Crosby, A. H. (2002). SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genetics, 31(4), 347-348. https://doi.org/10.1038/ng937