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Article

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2012

Conceição Pereira Maria, Loureiro José Leal, Pinto-Basto Jorge, Brandão Eva, Margarida Lopes Ana, Neves Georgina, Dias Pureza, Geraldes Ruth, Martins Isabel Pavão, Cruz Vitor Tedim, Kamsteeg Erik-Jan, Brunner Han G, Coutinho Paula, Sequeiros Jorge, Alonso Isabel

Abstract excerpt

PURPOSE: Hereditary spastic paraplegias compose a group of neurodegenerative disorders with a large clinical and genetic heterogeneity. Among the autosomal recessive forms, spastic paraplegia type 11 is the most common. METHODS: To better understand the spastic paraplegia type 11 mutation spectrum, we studied a group of 54 patients with hereditary spastic paraplegia. Mutation screening was performed by PCR...

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Identifiers

PMID: 22237444
DOI: 10.1038/gim.2011.7

Genes

SPG11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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