Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. In Sep 19, 2017, Vincent Huin and others published an article in << Parkinsonism & Related Disorders>> which title is “Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy”, reported on new clinical features and provide details of the cognitive profile in two SCA19/22 families. In addition to the classical clinical features of SCA, a wide spectrum of cognitive disorders (including visuospatial impairments) was observed. Eight patients had mild Parkinsonism, and five had epilepsy. Genetic testing showed that the KCND3 mutation (c.679_681delTTC, p.F227del) was present in both families. Their findings broaden the phenotypic spectrum of SCA19/22, and suggest that KCND3 should be included in the list of candidate genes for epilepsy, Parkinsonism and cognitive impairment.
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