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

Détails

ID Serval
serval:BIB_66D44418FD72
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.
Périodique
Journal of neurology
Auteur⸱e⸱s
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 M.
ISSN
1432-1459 (Electronic)
ISSN-L
0340-5354
Statut éditorial
Publié
Date de publication
06/2017
Peer-reviewed
Oui
Volume
264
Numéro
6
Pages
1118-1126
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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.

Mots-clé
Cerebellar ataxia, Dat-scan, Genetics, Imaging, Multiple system atrophy
Pubmed
Web of science
Création de la notice
28/08/2017 15:10
Dernière modification de la notice
20/08/2019 15:22
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