Kawai Yoshinari, Takeda Akinori, Abe Yuji, Washimi Yukihiko, Tanaka Fumiaki, Sobue Gen
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Arch Neurol. 2004 Nov;61(11):1757-60. doi: 10.1001/archneur.61.11.1757.
Cognitive function of Machado-Joseph disease (MJD) patients has not been clarified.
To determine the characteristics of cognitive dysfunction in MJD patients and to assess the relationship of dysfunction to age at onset, age at examination, disease duration, education, ataxia, depression, anxiety, and CAG repeat length.
Case-control study.
Research-oriented hospitals.
Sixteen genetically confirmed MJD patients able to complete neuropsychological tests and 20 control subjects matched to patients by age and education.
Neuropsychological tests, including general cognition, verbal and visual memory, working memory, visuospatial and constructional ability, language, executive function, depression, and anxiety.
Machado-Joseph disease patients scored significantly lower than controls in verbal and visual memory, in visuospatial and constructional tasks, and in phonemic and semantic fluency tasks. None of these impairments correlated with CAG repeat length, age at onset, age at examination, disease duration, or education. Verbal fluency (words named in a category) correlated with the International Cooperative Ataxia Rating Scale score.
Machado-Joseph disease patients have verbal and visual memory deficits, visuospatial and constructional dysfunction, and verbal fluency deficits, all unrelated to CAG repeat length.
马查多-约瑟夫病（MJD）患者的认知功能尚未明确。
确定MJD患者认知功能障碍的特征，并评估功能障碍与发病年龄、检查时年龄、病程、教育程度、共济失调、抑郁、焦虑及CAG重复长度之间的关系。
病例对照研究。
以研究为导向的医院。
16例经基因确诊且能够完成神经心理学测试的MJD患者，以及20例在年龄和教育程度上与患者匹配的对照者。
神经心理学测试，包括一般认知、言语和视觉记忆、工作记忆、视觉空间和构建能力、语言、执行功能、抑郁和焦虑。
MJD患者在言语和视觉记忆、视觉空间和构建任务以及音素和语义流畅性任务中的得分显著低于对照组。这些损害均与CAG重复长度、发病年龄、检查时年龄、病程或教育程度无关。言语流畅性（按类别说出的单词数）与国际合作共济失调评定量表得分相关。
MJD患者存在言语和视觉记忆缺陷、视觉空间和构建功能障碍以及言语流畅性缺陷，所有这些均与CAG重复长度无关。
