2. Academic Validation
  3. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

  • Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937.
Heema Patel 1,  Harold Cross,  Christos Proukakis,  Ruth Hershberger,  Peer Bork,  Francesca D Ciccarelli,  Michael A Patton,  Victor A McKusick,  Andrew H Crosby
Affiliations

Affiliation

  • 1 Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.
PMID: 12134148 DOI: 10.1038/ng937
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.

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