Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Mov Disord. 2013 Aug;28(9):1200-8. doi: 10.1002/mds.25513. Epub 2013 Jun 17.
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.
脊髓小脑性共济失调 3 型或 Machado-Joseph 病是全世界最常见的脊髓小脑性共济失调，Machado-Joseph 病中高发的非运动表现表明，这种单一遗传实体的临床表现具有很大的可变性。解剖学、生理学、临床和功能神经影像学数据都支持 Machado-Joseph 病涉及神经系统小脑外区域的退行性过程的观点。脑影像学和神经病理学研究显示桥脑、基底节、中脑、延髓、多个颅神经核以及丘脑和额、顶、颞、枕和边缘叶都有萎缩。这篇综述提供了 Machado-Joseph 病中非运动表现和小脑外症状的相关信息。本文讨论的 Machado-Joseph 病的主要非运动表现是：睡眠障碍、认知和情感障碍、精神症状、嗅觉功能障碍、周围神经病、疼痛、痉挛、疲劳、营养问题和自主神经功能障碍。此外，我们还简要讨论了非小脑运动表现，重点介绍运动障碍。
