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Article

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

Neurogenetics - 1 Apr 2015

López Eva, Casasnovas Carlos, Giménez Javier, Matilla-Dueñas Antoni, Sánchez Ivelisse, Volpini Víctor

Abstract excerpt

Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia (AR-HSP). Although over 77 different mutations have been identified in SPG7 patients, only 9 gross deletions have been reported with only a few of them being fully characterized....

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Source

Identifiers

PMID: 25398481
DOI: 10.1007/s10048-014-0429-6

Genes

SPG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25398481-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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