扩大 SCA19/22 的表型：帕金森病、认知障碍和癫痫。
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
机构信息
Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France; CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France.
CHU Lille, Institut de Biochimie et Biologie moléculaire, Centre de Biologie Pathologie et Génétique, F-59000, Lille, France.
出版信息
Parkinsonism Relat Disord. 2017 Dec;45:85-89. doi: 10.1016/j.parkreldis.2017.09.014. Epub 2017 Sep 19.
INTRODUCTION
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.
简介
脊髓小脑性共济失调 19 型和 22 型（SCA19/22）是两种罕见的疾病，其特征为相对孤立的小脑受累，常伴有认知障碍。在此，我们报告了两例 SCA19/22 家系的新临床特征，并详细介绍了认知特征。
方法
两例呈常染色体显性遗传的小脑共济失调家系接受了临床检查和基因检测。
结果
除了 SCA 的典型临床特征外，还观察到广泛的认知障碍（包括视空间障碍）。8 例患者有轻度帕金森病，5 例有癫痫。基因检测显示，两个家系均存在 KCND3 突变（c.679_681delTTC，p.F227del）。
结论
我们的研究结果拓宽了 SCA19/22 的表型谱，并提示 KCND3 应被纳入癫痫、帕金森病和认知障碍的候选基因列表。
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