Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.

摘要: Abstract The objective of this study was to determine the prevalence hereditary ataxias in Cuba, with a special focus on clinical and molecular features SCA2. Clinical assessments were performed by neurological examinations application SARA scale. Molecular analyses genes SCA1–3, SCA6, SCA17 DRPLA identified 753 patients SCA 7173 asymptomatic relatives, belonging 200 unrelated families. 86.79% all affected In Holguin province, average population SCA2 is 40.18 × 105 inhabitants, remarkable figure 141.66 × 105 Baguanos municipality. high mutation reflects most likely founder effect. stabilization along time suggests existence premutated chromosomes pure CAG, acting as reservoir for further expansions. CAG repeat length correlated inversely age at onset, accounting 80% variability. Genetic anticipation observed transmissions. Repeat instability greater paternal transmissions whereas expansions without 10.97% suggesting effect CAA interruptions segment, which decrease toxicity abnormal ataxin-2, and/or other protective factors.