  BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare
conditions in which relatively isolated cerebellar involvement is frequently
associated with cognitive impairment. Here, we report on new clinical features
and provide details of the cognitive profile in two SCA19/22 families.METHODS:
Two families displaying an autosomal-dominant form of cerebellar ataxia
underwent clinical examinations and genetic testing.RESULTS: 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.CONCLUSIONS:
Our 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.
