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

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 journal › Article › peer-review

227 Scopus citations

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 language	English (US)
Pages (from-to)	347-348
Number of pages	2
Journal	Nature Genetics
Volume	31
Issue number	4
DOIs	https://doi.org/10.1038/ng937
State	Published - Aug 2002
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia",

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.",

author = "Heema Patel and Harold Cross and Christos Proukakis and Ruth Hershberger and Peer Bork and Ciccarelli, {Francesca D.} and Patton, {Michael A.} and McKusick, {Victor A.} and Crosby, {Andrew H.}",

note = "Funding Information: We thank the Amish families for their support, help and generosity; and R. Geiser and J. Hostetler for help with geneology. This work was supported by the Birth Defects Foundation (UK), the Wellcome Trust, and Research to Prevent Blindness.",

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T1 - SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

AU - Patel, Heema

AU - Cross, Harold

AU - Proukakis, Christos

AU - Hershberger, Ruth

AU - Bork, Peer

AU - Ciccarelli, Francesca D.

AU - Patton, Michael A.

AU - McKusick, Victor A.

AU - Crosby, Andrew H.

N1 - Funding Information: We thank the Amish families for their support, help and generosity; and R. Geiser and J. Hostetler for help with geneology. This work was supported by the Birth Defects Foundation (UK), the Wellcome Trust, and Research to Prevent Blindness.

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AB - 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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SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Abstract

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