LAUSR

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

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0 Published in 2018 at "Journal of Neurology"

DOI: 10.1007/s00415-018-9141-z

Abstract: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy,… read more here.

Keywords: phenotype; screening recessive; ataxia; mutational screening ... See more keywords