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Article

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Journal of the neurological sciences - 15 Oct 2021

Baviera-Muñoz Raquel, Campins-Romeu Marina, Carretero-Vilarroig Lidón, Sastre-Bataller Isabel, Martínez-Torres Irene, Vázquez-Costa Juan F, Muelas Nuria, Sevilla Teresa, Vílchez Juan J, Aller Elena, Jaijo Teresa, Bataller Luis, Espinós Carmen

Abstract excerpt

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with...

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Identifiers

PMID: 34500365
DOI: 10.1016/j.jns.2021.118062

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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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