Gana Simone, Valente Enza Maria
IRCCS Mondino Foundation Pavia Italy.
Department of Molecular Medicine University of Pavia Pavia Italy.
Mov Disord Clin Pract. 2020 Apr 6;7(4):383-393. doi: 10.1002/mdc3.12937. eCollection 2020 May.
Genetic pediatric ataxias are heterogeneous rare disorders, mainly inherited as autosomal-recessive traits. Most forms are progressive and lack effective treatment, with relevant socioeconomical impact. Albeit ataxia represents the main clinical feature, the phenotype can be more complex, with additional neurological and nonneurological signs being described in several forms.
In this review, we provide an overview of the occurrence and spectrum of movement disorders in the most relevant forms of childhood-onset genetic ataxias. All types of hypokinetic and hyperkinetic movement disorders of variable severity have been reported. Movement disorders occasionally represent the symptom of onset, predating ataxia even of a few years and therefore challenging an early diagnosis. Their pathogenesis still remains poorly defined, as it is not yet clear whether movement disorders may directly relate to the cerebellar pathology or result from an extracerebellar dysfunction, including the basal ganglia.
Recognition of the complete movement disorder phenotype in genetic pediatric ataxias has important implications for diagnosis, management, and genetic counseling.
遗传性小儿共济失调是一类异质性罕见疾病，主要以常染色体隐性性状遗传。大多数类型呈进行性，且缺乏有效的治疗方法，具有相关的社会经济影响。尽管共济失调是主要的临床特征，但表型可能更为复杂，多种类型还伴有其他神经和非神经症状。
在本综述中，我们概述了儿童期起病的最相关类型遗传性共济失调中运动障碍的发生情况和谱系。已报道了各种严重程度的所有类型的运动减少和运动增多性运动障碍。运动障碍偶尔是起病症状，甚至比共济失调早数年出现，因此对早期诊断构成挑战。其发病机制仍不清楚，因为尚不清楚运动障碍是否可能直接与小脑病理相关，还是由包括基底神经节在内的小脑外功能障碍引起。
认识遗传性小儿共济失调中完整的运动障碍表型对诊断、管理和遗传咨询具有重要意义。
