Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Division of Clinical Neuropsychology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.
Parkinsonism Relat Disord. 2021 Apr;85:52-56. doi: 10.1016/j.parkreldis.2021.03.010. Epub 2021 Mar 13.
Cognitive impairment has now been recognised to be present in patients with several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with spinocerebellar ataxia type 12 has not been evaluated.
To evaluate the cognitive impairment in patients diagnosed with spinocerebellar ataxia type 12 (SCA12).
We conducted a cross sectional study and enrolled 30 (20 male and 10 female) genetically confirmed SCA12 patients and 30 healthy, age, gender and education matched individuals as controls. Cognitive domains were tested using a battery of validated neurocognitive tests.
Mean age of patients was 51.6 ± 8.0 years and mean disease duration was 5.3 ± 3.0 years. Mean International Cooperative Ataxia Rating Scale (ICARS) score was 29.8 ± 12.5. SCA 12 patients scored significantly lower than controls in executive function and new learning ability. Other tested cognitive domains were also affected but did not reach statistical significance. Age, age at onset, severity of ataxia, disease duration and CAG repeat length did not correlate with cognitive impairment.
Cognitive impairment is a part of the spectrum of SCA12 and is characterized by dysfunction in executive function and new learning ability even early in the course of disease.
认知障碍现在已被认为存在于几种脊髓小脑共济失调症（SCA）患者中。尚未评估脊髓小脑共济失调 12 型（SCA12）患者的认知障碍。
评估已确诊的脊髓小脑共济失调 12 型（SCA12）患者的认知障碍。
我们进行了一项横断面研究，纳入了 30 名（20 名男性和 10 名女性）经基因证实的 SCA12 患者和 30 名年龄、性别和教育程度相匹配的健康对照者。使用一系列经过验证的神经认知测试来测试认知领域。
患者的平均年龄为 51.6±8.0 岁，平均病程为 5.3±3.0 年。国际合作共济失调评分量表（ICARS）的平均得分为 29.8±12.5。SCA12 患者在执行功能和新学习能力方面的得分明显低于对照组。其他测试的认知领域也受到影响，但未达到统计学意义。年龄、发病年龄、共济失调严重程度、病程和 CAG 重复长度与认知障碍无关。
认知障碍是 SCA12 谱系的一部分，其特征是执行功能和新学习能力障碍，即使在疾病早期也是如此。
