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Autosomal dominant cerebellar ataxia corresponds to a clinically andgenetically heterogeneous group of neurodegenerative disorders that primarilyaffect the cerebellum. Here, we report the identification of the causative genein spinocerebellar ataxia 21, an autosomal-dominant disorder previously mappedto chromosome 7p21.3-p15.1. This ataxia was firstly characterized in a largeFrench family with slowly progressive cerebellar ataxia, accompanied by severecognitive impairment and mental retardation in two young children. Followingthe recruitment of 12 additional young family members, linkage analysis enabledus to definitively map the disease locus to chromosome 1p36.33-p36.32. Thecausative mutation, (c.509C4T/p.P170L) in the transmembrane protein geneTMEM240, was identified by whole exome sequencing and then was confirmed bySanger sequencing and co-segregation analyses. Index cases from 368 Frenchfamilies with autosomal-dominant cerebellar ataxia were also screened formutations. In seven cases, we identified a range of missense mutations(c.509C4T/p.P170L, c.239C4T/p.T80M, c.346C4T/p.R116C, c.445G4A/p.E149K,c.511C4T/p.R171W), and a stop mutation (c.489C4G/p.Y163*) in the same gene.TMEM240 is a small, strongly conserved transmembrane protein of unknownfunction present in cerebellum and brain. Spinocerebellar ataxia 21 may be aparticular early-onset disease associated with severe cognitive impairment.

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