ArticleJournal of neurology2022
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Article in Journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- A Case Report of Reversible Mitochondrial Bioenergetic Dysfunction in PBMCs in Anti-GAD65-Associated Cerebellar Ataxia.Cerebellum (London, England) · 2026Article
- Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias.Arquivos de neuro-psiquiatria · 2026Article
- Progress and challenges in sporadic late-onset cerebellar ataxias.Nature reviews. Neurology · 2025Review
- Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.Journal of neurology · 2025Article
- Video-Oculography as a Key Diagnostic Tool for SCA27B: A Real-Life Experience.European journal of neurology · 2025Article
- How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.Journal of neurology · 2024Article
- Article
- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Journal of neurology · 2024Article
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Clinical and translational medicine · 2024Review
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.Scientific reports · 2023Article
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Authors and funding
31 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDespite 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.
methodsWe 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.
resultsWe 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).
conclusionOur 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.
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