Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.
Neurology Service, Hospital Universitário, State University of Ponta Grossa, Ponta Grossa, Brazil.
Parkinsonism Relat Disord. 2018 Jan;46:3-8. doi: 10.1016/j.parkreldis.2017.12.009. Epub 2017 Dec 12.
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. Movement disorders in AT patients described in the literature are reviewed. The selected articles were analyzed with a focus on clinical presentation, presence of movement disorders, and atypical cases or variants of the syndrome. In AT patients, particularly adults, chorea and dystonia are the most common movement disorders, besides cerebellar ataxia. Myoclonus, tremor and parkinsonism have been described less frequently in patients with AT. Archetypal findings, such as oculocutaneous abnormalities may not be uniformly present. AT can present with different movement disorders, in isolation or combined, with or without cerebellar ataxia or oculocutaneous telangiectasias. Neurologists with expertise in movement disorders should be aware of AT when investigating patients with movement disorders of unknown etiology.
共济失调毛细血管扩张症（AT）是一种罕见的常染色体隐性神经退行性疾病，由 ATM 基因突变引起，具有进行性神经功能障碍、多系统异常和癌症易感性。经典的 AT 与小脑共济失调、眼皮肤毛细血管扩张和眼球运动不能症有关。本综述的目的是描述 AT 患者中观察到的运动障碍。回顾了文献中描述的 AT 患者的运动障碍。选择的文章进行了分析，重点关注临床表现、运动障碍的存在、以及该综合征的非典型病例或变异。在 AT 患者中，特别是成年患者，舞蹈症和肌张力障碍是最常见的运动障碍，除了小脑共济失调。肌阵挛、震颤和帕金森病在 AT 患者中描述较少。眼皮肤异常等典型表现可能并非普遍存在。AT 可表现为不同的运动障碍，单独或组合出现，伴有或不伴有小脑共济失调或眼皮肤毛细血管扩张。当调查病因不明的运动障碍患者时，具有运动障碍专业知识的神经病学家应意识到 AT 的存在。
