been detected in some states of Mexico, although SCA7 is also present in
SCA7 is an autosomal dominant cerebellar ataxia that is associated
account for the distribution of some the SCAs, such as the SCA7, in the
From molecular genetic analysis, we found 1 SCA1, 6 SCA3/MJD, 1 SCA7, 1 SCA8 and 1 undefined families.
sup] The expansion of polymorphic CAG repeats in the SCA7 gene was 54.
sup] Genetic testing demonstrated that the trinucleotide repeat sequences of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA8, SCAl2, SCAl7 and DRPLA were normal.
Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7
The frequency of the SCA7 mutation in SA remains one of the highest reported.
15) Until recently, the SCA7 mutation was found exclusively in individuals of black African descent, with the SCA2 mutation arising at a similarly high frequency.
Clinical findings in the more common types of SCA in the SA cohort * Clinical features SCA1 SCA2 SCA6 SCA7 Gait ataxia + + + + Limb ataxia + + + + Dysarthria + + + + Progressive disabling visual impairment + Maculopathy + Pigmentary retinopathy + Supranuclear ophthalmoplegia + + + Diplopia with inability to maintain ocular fixation + Reduced smooth pursuit eye movements + + Slow saccadic eye movements + + Brisk tendon reflexes/spasticity + + Sensory peripheral neuropathy + + Cognitive impairment (late) + + * SCA3 and SCA17 excluded owing to insufficient clinical data.
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.
The neurodegenerative disorders research team at the UCT Division of Human Genetics, in collaboration the University of Oxford, has recently established a ground-breaking new disease model for SCA7 using patient-derived cells to generate induced pluripotent stem cells (iPSCs).