TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

doi:10.1093/brain/awu202

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Article

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Brain : a journal of neurology - 1 Oct 2014

Delplanque Jérôme, Devos David, Huin Vincent, Genet Alexandre, Sand Olivier, Moreau Caroline, Goizet Cyril, Charles Perrine, Anheim Mathieu, Monin Marie Lorraine, Buée Luc, Destée Alain, Grolez Guillaume, Delmaire Christine, Dujardin Kathy, Dellacherie Delphine, Brice Alexis, Stevanin Giovanni, Strubi-Vuillaume Isabelle, Dürr Alexandra, Sablonnière Bernard

Abstract excerpt

Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1. This ataxia was firstly characterized in a large French family with slowly...

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PMID: 25070513
DOI: 10.1093/brain/awu202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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