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首页> 外文期刊>Advances in anatomy embryology and cell biology. >Chapter 5 Consistent and Widespread Degeneration of the Cerebellum in Huntington's Disease (HD)
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Chapter 5 Consistent and Widespread Degeneration of the Cerebellum in Huntington's Disease (HD)

机译：第五章亨廷顿氏病（HD）的小脑一致且广泛变性

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摘要

The autosomal dominantly inherited polyglutaminopathy causing Huntington's disease (HD) is a currently untreatable and rare neuropsychiatric disorder with an estimated prevalence in Europe and the USA of 4-8:100,000 (Andrew et al. 1993; Finkbeiner and Mitra 2008; Harper 1992; Labbadia and Morimoto 2013; Margolis and Ross 2003; Ortega et al. 2007; Rub et al. 2009; Schapira et al. 2014; Schulte and Littleton 2011; Tanner and Goldman 1994; Vonsattel and DiFiglia 1998; Walker 2007 a, b). The symptoms of adult-onset HD commonly begin around the age of 40 years with progressive cognitive impairments and motor symptoms often designated as clumsiness, tremor, balance trouble, or jerkiness. Although choreatic movements may also be among the early and progressive HD symptoms, they plateau and disappear in the advanced clinical stages. During the late clinical stage, additional somato-motor (i.e., bradykinesia, akinesia, dystonia, hypotonia, rigidity, dysarthria, dysphagia) and oculomotor symptoms, visual and executive dysfunctions, personality changes, psychiatric disturbances (e.g., depression, schizophrenia-like symptoms), electrophysiological abnormalities, and an unintended, severe, and unexplained weight loss may occur (Andrew et al. 1993; Aziz et al. 2008; Borrell-Pages et al. 2006; Bruyn et al. 1979: Deuschl et al. 1989; Ellenberger et al. 1978; Gil and Rego 2008; Heinsen et al. 1994; Hennerici et al. 1985; Imarisio et al. 2008; Josiassen et al. 1984; Knikou 2008; Kremer et al. 1992; Lasker and Zee 1997; Leigh and Zee 2006; Li and Conforti 2013; Margolis and Ross 2003; McLeod 1969; Misiaszek 2003; Myers 2004; Petersen et al. 2005; Ross and Tabrizi 2011; Rub et al. 2009, 2013a, 2014a, b; The Huntington's disease Collaborative Research Group 1993; Vonsattel 2008; Vonsattel and DiFiglia 1998; Vonsattel et al. 1985; Walker 2007a, b).
机译：常染色体显性遗传性多谷氨酰胺病导致亨廷顿舞蹈病（HD）是目前无法治疗的罕见神经精神疾病，在欧洲和美国的患病率估计为4-8：100,000（Andrew等，1993; Finkbeiner和Mitra，2008; Harper，1992; Labbadia和Morimoto 2013; Margolis and Ross 2003; Ortega等2007; Rub等2009; Schapira等2014; Schulte和Littleton 2011; Tanner和Goldman 1994; Vonsattel和DiFiglia 1998; Walker 2007 a，b）。成人发作性高清的症状通常始于40岁左右，伴有进行性认知障碍和运动症状，通常被称为笨拙，震颤，平衡障碍或突然发作。尽管舞蹈运动也可能是早期和进行性HD症状的一部分，但它们却达到平稳状态，并在晚期临床阶段消失。在临床后期，还会发生其他躯体运动（即运动迟缓，运动障碍，肌张力障碍，肌张力减退，僵硬，构音障碍，吞咽困难）和眼动症状，视觉和执行功能障碍，人格改变，精神病（例如抑郁症，精神分裂症样症状） ），电生理异常以及意外的，严重的，无法解释的体重减轻可能会发生（Andrew等，1993; Aziz等，2008; Borrell-Pages等，2006; Bruyn等，1979; Deuschl等，1989; Ellenberger等1978; Gil和Rego 2008; Heinsen等1994; Hennerici等1985; Imarisio等2008; Josiassen等1984; Knikou 2008; Kremer等1992; Lasker和Zee 1997; Leigh Zee 2006; Li和Conforti 2013; Margolis和Ross 2003; McLeod 1969; Misiaszek 2003; Myers 2004; Petersen等2005; Ross and Tabrizi 2011; Rub等2009，2013a，2014a，b;亨廷顿舞蹈病研究小组1993年;冯萨特尔2008年;冯萨特尔和迪菲利亚1998年;冯萨特尔等人19 85; Walker 2007a，b）。

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