Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutation
in the anoctamin 10 gene is infrequent and little is known about its cognitive profile. Three siblings (1 male)
with this mutation were assessed with a neuropsychological battery measuring multiple cognitive domains.
The deficits observed in one patient were in executive functions whereas the other two patients showed
deficits in practically all the functions. Cognitive impairment seems to be a characteristic of the SCAR10
produced by this mutation, with a range from mild impairment, especially involving prefrontal systems, to a
severe cognitive impairment suggesting widespread cerebral involvement.
