论文标题
扩展SCA19/22的表型：帕金森氏症，认知障碍和癫痫病
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
论文作者
论文摘要
背景：19和22型的脊椎脑性共济失调（SCA19/22）是罕见的条件，其中相对孤立的小脑参与经常与认知障碍有关。在这里，我们报告了新的临床特征，并提供了两个SCA19/22家族的认知特征的详细信息。方法：两个家庭显示出常染色体式 - 小脑共济失调形式的形式，进行了临床检查和基因测试。除外：除了SCA的经典临床特征外，还包括广泛的认知异常（包括coptressions coptress）（包括co vistress）。八名患者患有温和的帕金森病，五名患有癫痫病。 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.
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.
