Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

ABSTRACT

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.

KEYWORDS:

• ANO10 gene
• autosomal recessive spinocerebellar ataxia
• SCAR10 cognitive impairment
• cerebellum

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

The research of this work was funded by the Ministerio de Economia y Competitividad grant PSI2015-67514-P (to AN), the Spanish Health Institute Carlos III grants CP08/00027 and CPII14/00029 (to AM-D), and FIS PI14/00136 and PI17/00534 (to AM-D). Antoni Matilla Dueñas was a Miguel Servet Investigator in Neuroscience supported by the Spanish Health Institute Carlos III (ISCIII; CPII14/00029).