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Article

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

American journal of human genetics - 1 May 2002

Hansen Jens Jacob, Dürr Alexandra, Cournu-Rebeix Isabelle, Georgopoulos Costa, Ang Debbie, Nielsen Marit Nyholm, Davoine Claire-Sophie, Brice Alexis, Fontaine Bertrand, Gregersen Niels, Bross Peter

Abstract excerpt

SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the V72I substitution. A complementation assay showed that wild-type HSP60 (also known as "HSPD1"), but not HSP60...

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Identifiers

PMID: 11898127
DOI: 10.1086/339935
PMCID: PMC447607

Genes

HSPD1
HSPE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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