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Article

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Nature genetics - 1 Aug 2002

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

Abstract excerpt

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 anal...

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Source

Identifiers

PMID: 12134148
DOI: 10.1038/ng937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12134148-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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