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Article

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Journal of neurology - 1 Aug 2008

Tzoulis Charalampos, Denora Paola S, Santorelli Filippo M, Bindoff Laurence A

Abstract excerpt

Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian...

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Source

Identifiers

PMID: 18563470
DOI: 10.1007/s00415-008-0858-y

Genes

SPG7

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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