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| Home > Publications Database > Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. |
| Home > Publications Database > Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. |
| Journal Article | DZNE-2020-05810 |
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2017
Ovid
[S.l.]
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Please use a persistent id in citations: doi:10.1212/WNL.0000000000004311
Abstract: To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.Methods:The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing.Results:The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p < 0.0001) and disease duration (0.22 ± 0.06 per additional year, p = 0.0007) were associated with a higher SARA score. Forty-eight participants who did not fulfill MSA-C criteria and had a disease duration of >10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6%), a definitive or probable genetic diagnosis was made.Conclusions:Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort.
Keyword(s): Aged (MeSH) ; Ataxia: genetics (MeSH) ; Ataxia: physiopathology (MeSH) ; DNA Mutational Analysis (MeSH) ; Europe (MeSH) ; Female (MeSH) ; Follow-Up Studies (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Mutation (MeSH) ; Neurodegenerative Diseases: genetics (MeSH) ; Neurodegenerative Diseases: physiopathology (MeSH) ; Severity of Illness Index (MeSH)
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