Selective Forces Related to Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2 . Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of antic...

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Bibliographic Details
Published in:Cerebellum (London, England) England), 2019-04, Vol.18 (2), p.188-194
Main Authors: Sena, Lucas Schenatto, Castilhos, Raphael Machado, Mattos, Eduardo Preusser, Furtado, Gabriel Vasata, Pedroso, José Luiz, Barsottini, Orlando, de Amorim, Maria Marla Paiva, Godeiro, Clecio, Pereira, Maria Luiza Saraiva, Jardim, Laura Bannach
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Alleles
Animal reproduction
Ataxia
Ataxin-2 - genetics
Biomedical and Life Sciences
Biomedicine
Breeding success
Children
Chromosomes
Female
Gene frequency
Genetic Fitness
Heterozygote
Humans
Male
Middle Aged
Neurobiology
Neurology
Neurosciences
Original Paper
Polyglutamine
Selection, Genetic
Siblings
Spinocerebellar ataxia
Spinocerebellar Ataxias - epidemiology
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - physiopathology
Success
Trinucleotide Repeat Expansion
Trinucleotide repeats
Young Adult
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Summary:Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2 . Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Adult subjects from families with molecular diagnosis provided data about all his/her relatives. Affected and unaffected sibs older than 65.7 years of age were used to estimate reproductive success and segregation patterns. Twenty-one SCA2 families were studied, including 1017 individuals (164 affected) who were born from 1840 to 2012. The median number of children of the non-carriers and carriers, among 99 subjects included in the reproductive success analysis, were 2 and 3 ( p  
ISSN:1473-4222
1473-4230
DOI:10.1007/s12311-018-0977-7