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. 2024 Jun;23(3):1176-1183.
doi: 10.1007/s12311-023-01600-x. Epub 2023 Sep 12.

Epidemiology of Spinocerebellar Ataxias in Europe

Filippo De Mattei #  1 , Fabio Ferrandes #  2 , Salvatore Gallone  3 , Antonio Canosa  1   3   4 , Andrea Calvo  1   3   4 , Adriano Chiò  1   3   4 , Rosario Vasta  1
Affiliations

Epidemiology of Spinocerebellar Ataxias in Europe

Filippo De Mattei et al. Cerebellum. 2024 Jun.

Abstract

Spinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. PubMed, Embase, and MEDLINE were searched from inception until 1 April 2023. All English peer-reviewed articles published were considered and then filtered by abstract examination and subsequently by full text reading. A total of 917 original articles were retrieved. According to the inclusion criteria and after reviewing references for useful papers, a total of 35 articles were included in the review. Overall, SCA3 is the most frequent spinocerebellar ataxia in Europe. Its frequency is strikingly higher in Portugal, followed by Germany, France, and Netherlands. None or few cases were described in Italy, Russia, Poland, Serbia, Finland, and Norway. SCA1 and SCA2 globally displayed similar frequencies, and are more prevalent in Italy, United Kingdom, Poland, Serbia, and France.

Keywords: Autosomal dominant cerebellar ataxias; Epidemiology; Review; SCA; Spinocerebellar ataxias.

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Conflict of interest statement

Fabio Ferrandes, Filippo De Mattei, Salvatore Gallone, Antonio Canosa, and Rosario Vasta have no disclosures.

Andrea Calvo has received research support from the Italian Ministry of Health (Ricerca Finalizzata).

Adriano Chiò serves on the editorial advisory board of Amyotrophic Lateral Sclerosis and Neurological Sciences and has received research support from the Italian Ministry of Health (Ricerca Finalizzata), Regione Piemonte (Ricerca Finalizzata), University of Turin, and the European Commission (Health Seventh Framework Programme) and serves on scientific advisory boards for Biogen Idec, Cytokinetics, and Italfarmaco.

Figures

Fig. 1
Fig. 1
Flowchart showing number of citations retrieved by database searching and the number and type of studies included in this review
Fig. 2
Fig. 2
Europe map showing the relative frequency of SCA1 (a), SCA2 (b), and SCA3 (c) according to the studies retrieved. Gray refers to countries for which SCA epidemiology is missing. Countries for which multiple studies were available (namely, Finland, France, Italy, Norway, Poland, Portugal, Spain, and United Kingdom) were represented based on the estimates from the study with the highest number of individuals/families included. Iceland, Svalbard Islands, Russia, and Kazakhstan were not included for the sake of image’s dimensions
See this image and copyright information in PMC

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