Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson J B, Lagha-Boukbiza O, Fleury M C, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer I J, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim Mathieu
Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 1 avenue Molière, Strasbourg, 67098, Cedex, France.
Faculté de Médecine, Université de Lubumbashi, Faculté de Médecine et Ecole de Santé Publique, Département de Santé Publique, Lubumbashi, Democratic Republic of the Congo.
J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.
The management of sporadic late-onset cerebellar ataxias represents a very heterogeneous group of patients and remains a challenge for neurologist in clinical practice. We aimed at describing the different causes of sporadic late-onset cerebellar ataxias that were diagnosed following standardized, exhaustive investigations and the population characteristics according to the aetiologies as well as at evaluating the relevance of these investigations. All patients consecutively referred to our centre due to sporadic, progressive cerebellar ataxia occurring after 40 years of age were included in the prospective, observational study. 80 patients were included over a 2 year period. A diagnosis was established for 52 patients (65%) corresponding to 18 distinct causes, the most frequent being cerebellar variant of multiple system atrophy (n = 29). The second most frequent cause was inherited diseases (including spinocerebellar ataxias, late-onset Friedreich's disease, SLC20A2 mutations, FXTAS, MELAS, and other mitochondrial diseases) (n = 9), followed by immune-mediated or other acquired causes. The group of patient without diagnosis showed a slower worsening of ataxia (p < 0.05) than patients with multiple system atrophy. Patients with later age at onset experienced faster progression of ataxia (p = 0.001) and more frequently parkinsonism (p < 0.05) than patients with earlier onset. Brain MRI, DaT scan, genetic analysis and to some extent muscle biopsy, thoracic-abdominal-pelvic tomodensitometry, and cerebrospinal fluid analysis were the most relevant investigations to explore sporadic late-onset cerebellar ataxia. Sporadic late-onset cerebellar ataxias should be exhaustively investigated to identify the underlying causes that are numerous, including inherited causes, but dominated by multiple system atrophy.
散发性迟发性小脑共济失调患者的管理涉及非常异质性的一组患者，在临床实践中对神经科医生来说仍然是一项挑战。我们旨在描述经标准化、详尽检查后确诊的散发性迟发性小脑共济失调的不同病因以及根据病因的人群特征，并评估这些检查的相关性。所有因40岁后出现的散发性、进行性小脑共济失调而连续转诊至我们中心的患者均纳入这项前瞻性观察性研究。在2年期间纳入了80例患者。52例患者（65%）确诊，对应18种不同病因，最常见的是多系统萎缩的小脑型（n = 29）。第二常见病因是遗传性疾病（包括脊髓小脑共济失调、迟发性弗里德赖希共济失调、SLC20A2突变、脆性X震颤共济失调综合征、线粒体脑肌病伴乳酸血症和卒中样发作及其他线粒体疾病）（n = 9），其次是免疫介导或其他后天性病因。未确诊的患者组共济失调恶化速度比多系统萎缩患者慢（p < 0.05）。发病年龄较大的患者比发病较早的患者共济失调进展更快（p = 0.001）且帕金森ism更常见（p < 0.05）。脑MRI、多巴胺转运体扫描、基因分析以及在一定程度上肌肉活检、胸腹部盆腔断层扫描和脑脊液分析是探索散发性迟发性小脑共济失调最相关的检查。散发性迟发性小脑共济失调应进行详尽检查以确定众多潜在病因，包括遗传性病因，但以多系统萎缩为主。
