Center for the Research and Rehabilitation of the Hereditary Ataxias (CIRAH), Carretera Central Km 5 ½ Reparto Edecío Pérez, 80100, Holguín, Cuba,
Cerebellum. 2014 Apr;13(2):215-21. doi: 10.1007/s12311-013-0526-3.
Hereditary ataxias are a heterogeneous group of neurological diseases characterized by progressive cerebellar syndrome and numerous other features, which result in great diversity of ataxia subtypes. Despite the characterization of a number of both autosomal dominant and autosomal recessive ataxias, it is thought that a large group of these conditions remains to be identified. In this study, we report the characterization of five patients (three Mexicans and two Italians) who exhibit a peculiar form of recessive ataxia associated with coughing. The main clinical and neurophysiological features of these patients include cerebellar ataxia, paroxysmal cough, restless legs syndrome (RLS), choreic movements, atrophy of distal muscles, and oculomotor disorders. Brain magnetic resonance imaging (MRI) revealed cerebellar atrophy, while video polysomnography (VPSG) studies showed a severe pattern of breathing-related sleep disorder, including sleep apnea, snoring, and significant oxygen saturation in the absence of risk factors. All patients share clinical features in the peripheral nervous system, including reduction of amplitude and prolonged latency of sensory potentials in median and sural nerves. Altogether, clinical criteria as well as molecular genetic testing that was negative for different autosomal dominant and autosomal recessive ataxias suggest the presence of a new form of recessive ataxia. This ataxia, in which cerebellar signs are preceded by paroxysmal cough, affects not only the cerebellum and its fiber connections, but also the sensory peripheral nervous system and extracerebellar central pathways.
遗传性共济失调是一组异质性的神经退行性疾病，其特征为进行性小脑综合征和多种其他特征，导致了共济失调亚型的多样性。尽管已经确定了许多常染色体显性和常染色体隐性遗传性共济失调，但据认为，仍有很大一部分此类疾病有待发现。在这项研究中，我们报告了五名患者（三名墨西哥人和两名意大利人）的特征，他们表现出一种与咳嗽相关的特殊形式的隐性共济失调。这些患者的主要临床和神经生理学特征包括小脑性共济失调、阵发性咳嗽、不安腿综合征（RLS）、舞蹈样运动、远端肌肉萎缩和眼球运动障碍。脑部磁共振成像（MRI）显示小脑萎缩，而视频多导睡眠图（VPSG）研究显示呼吸相关睡眠障碍的严重模式，包括睡眠呼吸暂停、打鼾和在没有危险因素的情况下显著的氧饱和度下降。所有患者在周围神经系统中都有共同的临床特征，包括正中神经和腓肠神经感觉电位幅度降低和潜伏期延长。总之，临床标准以及针对不同常染色体显性和常染色体隐性遗传性共济失调的分子遗传学检测均为阴性，提示存在一种新的隐性共济失调形式。这种共济失调以阵发性咳嗽为首发症状，不仅影响小脑及其纤维连接，还影响感觉周围神经系统和小脑外中枢通路。
