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Article

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Molecular genetics & genomic medicine - 1 Jun 2024

Mademont-Soler Irene, Esteba-Castillo Susanna, Jiménez-Xifra Aida, Alemany Berta, Ribas-Vidal Núria, Cutillas Maria, Coll Mònica, Pinsach Mel Lina, Pagans Sara, Alcalde Mireia, Viñas-Jornet Marina, Montero-Vale Mercedes, de Castro-Miró Marta, Rodríguez Jairo, Armengol Lluís, Queralt Xavier, Obón María

Abstract excerpt

BACKGROUND: Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). METHODS: The proband is a 36-year-old female referred for genetic evaluation due to cognitive dysfunction, gait impairment, and corpus callosum atrophy (brain MRI was normal at 25-years-old). Diagnostic approaches...

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Identifiers

PMID: 38938072
DOI: 10.1002/mgg3.2475
PMCID: PMC11211614

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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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