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

doi:10.1038/ng937

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22.

Authors

Heema Patel¹, Harold Cross, Christos Proukakis, Ruth Hershberger, Peer Bork, Francesca D Ciccarelli, Michael A Patton, Victor A McKusick, Andrew H Crosby

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases
Adipose Tissue / metabolism
Calcium-Binding Proteins / genetics
Calcium-Binding Proteins / metabolism
Cell Cycle Proteins
Chromosome Mapping
Chromosomes, Human, Pair 13*
Exons
Humans
Molecular Sequence Data
Mutation*
Polymorphism, Single-Stranded Conformational
Proteins / genetics*
Proteins / metabolism*
Spastic Paraplegia, Hereditary / genetics*
Spastin

Substances

Calcium-Binding Proteins
Cell Cycle Proteins
Proteins
SPART protein, human
Adenosine Triphosphatases
Spastin
SPAST protein, human

Associated data

GENBANK/AY123329
GENBANK/AY123330
GENBANK/AY123331
GENBANK/AY123332
GENBANK/AY123333
GENBANK/AY123334
GENBANK/AY123335
GENBANK/AY123336
GENBANK/AY123337