Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Gebus O.; Montaut S.; Monga B.; Wirth T.; Cheraud C.; Do Rego C. Alves; Zinchenko I.; Carre 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

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Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

机译：解读零星晚期诊断症症的原因：诊断工作影响的前瞻性研究

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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.

机译：散发性晚期脑梗死的管理是一种非常异质的患者组，对临床实践中神经病学者仍然是挑战。我们旨在描述散发性后发脑梗死的不同原因，这些原因是根据疾病的标准化，详尽的调查和人口特征进行诊断，以及评估这些调查的相关性。所有患者因散发性，均致散发性的患者均载入我们的中心，在40岁以后被纳入前瞻性的观察研究。 80名患者被列入2年内。对应于18名不同原因的52名患者（65％）建立了诊断，最常见的是多种系统萎缩的小脑变体（n = 29）。第二种最常见的原因是遗传性疾病（包括纺丝大脑脑和XAXIAS，晚期葡萄酒炸雷氏虫，SLC20A2突变，FXTAS，MELAS和其他线粒体疾病）（n = 9），然后是免疫介导或其他获得的原因。没有诊断的患者群体表现出速度恶化，而不是多种系统萎缩的患者。患有早期年龄的患者经历了增生的快速进展（P = 0.001），比早期发病的患者更常见的帕金森（P <0.05）。脑MRI，DAT扫描，遗传分析以及一定程度的肌肉活组织检查，胸腹盆腔上沉淀物测定法和脑脊液分析是探索零星的晚期脑卒中共济失调的最相关的调查。应详尽研究零星的后期大脑ataxias以确定众多的潜在原因，包括遗传原因，但由多个系统萎缩主导。

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来源
《Journal of neurology》 |2017年第6期|共9页
作者
Gebus O.; Montaut S.; Monga B.; Wirth T.; Cheraud C.; Do Rego C. Alves; Zinchenko I.; Carre 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;
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作者单位

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Univ Lubumbashi Fac Med Ecole Sante Publ Dept Sante Publ Lubumbashi DEM REP CONGO;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop La Pitie Salpetriere AP HP Serv Neurol 2 Paris France;

Hop Univ Strasbourg Serv Anatomopathol Hop Hautepierre Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Lab Diagnost Genet Nouvel Hop Civil Strasbourg France;

Univ Rouen Inserm U1079 IRIB Normandy Univ Rouen France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Ctr Hosp Reg Univ Besancon Serv Neurol 1 Besancon France;

Univ Grenoble Cent Hosp Serv Neurol Grenoble France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

CHU Ctr Biol &

Pathol Est Serv Maladie Hereditaire Metab Lyon France;

CHU Inst Univ Rech Clin EA7402 Lab Genet Mol Montpellier France;

Univ Strasbourg Serv Imagerie 2 CHU Strasbourg Lab Cube 1 Strasbourg France;

Univ Strasbourg Serv Imagerie 2 CHU Strasbourg Lab Cube 1 Strasbourg France;

Hop Univ Strasbourg Serv Med Hop Hautepierre Strasbourg France;

Hop Univ Pitie Salpetriere Charles Foix AP HP Dept Genet Paris France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

Hop Univ Strasbourg Serv Neurol Hop Hautepierre 1 Ave Moliere F-67098 Strasbourg France;

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正文语种 eng
中图分类神经病学;
关键词
Cerebellar ataxia; Multiple system atrophy; Genetics; Dat-scan; Imaging;

机译：小脑共济失调;多系统萎缩;遗传学;DAT-SCAN;成像;

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专利

1. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work [J] . Gebus O., Montaut S., Monga B., Journal of neurology . 2017,第6期

机译：解读零星晚期诊断症症的原因：诊断工作影响的前瞻性研究
2. Antineuronal antibodies in sporadic late-onset cerebellar ataxia. [J] . Burk K, Wick M, Roth Journal of neurology . 2010,第1期

机译：抗神经元抗体在散发性迟发性小脑共济失调中的作用。
3. Antineuronal antibodies in sporadic late-onset cerebellar ataxia [J] . K. Bürk, M. Wick, G. Roth, Journal of Neurology . 2010,第1期

机译：抗神经元抗体在散发性迟发性小脑共济失调中的作用
4. Cerebellar ataxia patients are able to use motor imagery to modulate mu-band power in a pilot study of EEG-based brain-computer interface control [C] . Ying Sarah H., Newman Geoffrey I., Choi Young-Seok, 2011 5th International IEEE/EMBS Conference on Neural Engineering . 2011

机译：小脑共济失调患者能够在基于EEG的脑机接口控制的先导研究中使用运动图像来调节mu波段功率
5. "Very Many More Men than Women": A Study of the Social Implications of Diagnostics at the South Carolina State Hospital. [D] . Bertagnolli, Clara Elizabeth. 2015

机译：“男人比女人多得多”：对南卡罗来纳州立医院诊断学的社会影响的研究。
6. Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia—Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias [O] . Marios Hadjivassiliou, Francesc Graus, Jerome Honnorat, -1

机译：原发性自身免疫性小脑共济失调的诊断标准-免疫介导的小脑共济失调国际工作组的指南
7. Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias [O] . P. Federighi, G. Cevenini, M. T. Dotti, 2011

机译：Spinocerebellar Ataxia 2和晚期脑卒中患者扫视动力学的差异

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

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