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Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.
- Source :
-
Neuroscience letters [Neurosci Lett] 2009 Apr 24; Vol. 454 (2), pp. 157-60. Date of Electronic Publication: 2009 Mar 11. - Publication Year :
- 2009
-
Abstract
- The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2. Clinical assessments were performed by neurological examinations and application of the SARA scale. Molecular analyses of genes SCA1-3, SCA6, SCA17 and DRPLA identified 753 patients with SCA and 7173 asymptomatic relatives, belonging to 200 unrelated families. 86.79% of all SCA patients were affected with SCA2. In the Holguin province, the average population prevalence of SCA2 is 40.18x10(5) inhabitants, with the remarkable figure of 141.66x10(5) in the Baguanos municipality. The high prevalence of the SCA2 mutation in Holguin reflects most likely a founder effect. The stabilization of the prevalence along time suggests the existence of premutated chromosomes with pure CAG, acting as reservoir for further expansions. CAG repeat length correlated inversely with age at onset, accounting for 80% of the variability. Genetic anticipation was observed in the 80% of transmissions. Repeat instability was greater in paternal transmissions whereas CAG expansions without anticipation was observed in 10.97% suggesting the effect of CAA interruptions in the CAG segment, which decrease the toxicity of the abnormal ataxin-2, and/or other protective factors.
- Subjects :
- Adolescent
Adult
Age of Onset
Aged
Anticipation, Genetic
Child
Child, Preschool
Cuba epidemiology
Female
Gene Frequency
Humans
Male
Middle Aged
Nerve Tissue Proteins genetics
Prevalence
Severity of Illness Index
Trinucleotide Repeat Expansion
Young Adult
Founder Effect
Spinocerebellar Ataxias epidemiology
Spinocerebellar Ataxias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0304-3940
- Volume :
- 454
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Neuroscience letters
- Publication Type :
- Academic Journal
- Accession number :
- 19429075
- Full Text :
- https://doi.org/10.1016/j.neulet.2009.03.015