Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

被引：19

作者：

Bogdan, T. ^{[1
]}

Wirth, T. ^{[1
,2
,3
,4
]}

Iosif, A. ^{[1
]}

Schalk, A. ^{[2
,5
]}

Montaut, S. ^{[1
]}

Bonnard, C. ^{[1
]}

Carre, G. ^{[1
]}

Lagha-Boukbiza, O. ^{[1
]}

Reschwein, C. ^{[1
]}

Albugues, E. ^{[1
]}

Demuth, S. ^{[1
]}

Landsberger, H. ^{[1
]}

Einsiedler, M. ^{[1
]}

Parratte, T. ^{[1
]}

Nguyen, A. ^{[1
]}

Lamy, F. ^{[1
]}

Durand, H. ^{[1
]}

Fahrer, P. ^{[1
]}

Voulleminot, P. ^{[1
]}

Bigaut, K. ^{[1
]}

Chanson, J. B. ^{[1
]}

Nicolas, G. ^{[6
,7
,8
]}

Chelly, J. ^{[5
]}

Cazeneuve, C. ^{[9
]}

Koenig, M. ^{[10
]}

Bund, C. ^{[11
,12
]}

Namer, I. J. ^{[11
,12
]}

Kremer, S. ^{[13
]}

Calmels, N. ^{[5
]}

Tranchant, C. ^{[1
,2
,3
,4
]}

Anheim, M. ^{[1
,2
,3
,4
]}

机构：

[1] Strasbourg Univ Hosp, Neurol Dept, Strasbourg, France

[2] Strasbourg Univ, Strasbourg Federat Translat Med FMTS, Strasbourg, France

[3] Univ Strasbourg, INSERM, U964, Illkirch Graffenstaden, France

[4] Univ Strasbourg, CNRS, UMR7104, Illkirch Graffenstaden, France

[5] Strasbourg Univ Hosp, Lab Genet Diag, IGMA, Strasbourg, France

[6] Normandie Univ, Dept Genet, UNIROUEN, INSERM,U1245, F-76000 Rouen, France

[7] Normandie Univ, CNRMAJ, FHU G4 Genom, UNIROUEN,INSERM,U1245, F-76000 Rouen, France

[8] CHU Rouen, F-76000 Rouen, France

[9] Univ Hosp Pitie Salpetriere, AP HP, Dept Genet, Neurogenet Lab, Paris, France

[10] Montpellier Univ Hosp, Lab Mol Genet, Montpellier, France

[11] Strasbourg Univ Hosp, Dept Nucl Med, Strasbourg, France

[12] ICANS, Dept Nucl Med & Mol Imaging, Strasbourg, France

[13] Strasbourg Univ Hosp, Dept Radiol, Strasbourg, France

来源：

JOURNAL OF NEUROLOGY | 2022年 / 269卷 / 12期

关键词：

Late-onset cerebellar ataxia; Multiple system atrophy; Genetics; Brain MRI; I123-ioflupane SPECT; COMMON-CAUSE; DIAGNOSIS; CLASSIFICATION;

D O I：

10.1007/s00415-022-11253-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background Despite recent progress in the field of genetics, sporadic late-onset (> 40 years) cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic workup still needs to be determined. We aimed to comprehensively describe the causes of SLOCA and to discuss the relevance of the investigations. Methods We included 205 consecutive patients with SLOCA seen in our referral center. Patients were prospectively investigated using exhaustive clinical assessment, biochemical, genetic, electrophysiological, and imaging explorations. Results We established a diagnosis in 135 (66%) patients and reported 26 different causes for SLOCA, the most frequent being multiple system atrophy cerebellar type (MSA-C) (41%). Fifty-one patients (25%) had various causes of SLOCA including immune-mediated diseases such as multiple sclerosis or anti-GAD antibody-mediated ataxia; and other causes, such as alcoholic cerebellar degeneration, superficial siderosis, or Creutzfeldt-Jakob disease. We also identified 11 genetic causes in 20 patients, including SPG7 (n = 4), RFC1-associated CANVAS (n = 3), SLC20A2 (n = 3), very-late-onset Friedreich's ataxia (n = 2), FXTAS (n = 2), SCA3 (n = 1), SCA17 (n = 1), DRPLA (n = 1), MYORG (n = 1), MELAS (n = 1), and a mitochondriopathy (n = 1) that were less severe than MSA-C (p < 0.001). Remaining patients (34%) had idiopathic late-onset cerebellar ataxia which was less severe than MSA-C (p < 0.01). Conclusion Our prospective study provides an exhaustive picture of the etiology of SLOCA and clues regarding yield of investigations and diagnostic workup. Based on our observations, we established a diagnostic algorithm for SLOCA.

引用

页码：6354 / 6365

页数：12

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