SCA7Spinocerebellar Ataxia Type 7
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2012 (56) altered miRNA pathway SCA7 ATXN7 Antisense Tan et al.
Origin of the SCA7 gene mutation in South Africa and implications for molecular diagnostics in the South African indigenous black population.
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India.
([section]) 2 cases of SCA7 (2.6%) and 5 cases of SCA12 (6.5%) were reported from 77 families Table II.
This category includes SCA7. (3) ADCA type III only presents late onset of cerebellar ataxia.
The repeat-containing regions of the genes causing SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPLA were amplified using appropriate primer pairs with polymerase chain reaction (PCR) [Table 1].
To date, our research has been primarily focused on the study of the SCA7 protein in transfected neuronal cell lines and transgenic mouse models.
Origin of the SCA7 gene mutation in South Africa: Implications for molecular diagnostics.
The frequency of the SCA7 mutation in SA remains one of the highest reported.
The development of effective therapies for polyQ diseases is particularly relevant to South Africa, where the frequencies of SCA1 and SCA7 are among the highest globally.