SCA3Spinocerebellar Ataxia type 3 (also known as Machado-Joseph Disease)
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Reports suggest higher distributions of SCA1 and 2 in various populations native to India, but there are additional reports of Indian individuals diagnosed with SCA3 or 6.
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.
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.
SCA2 and SCA3 mRNA sequences were obtained in FASTA format from NCBI (8).
In order to minimize the complexity of analysis of genotype of the SCA sequences were screened through JaMBW software and the universal primer was designed for SCA2 and SCA3 (for all variants).
The hybridization probes for SCA2 and SCA3 were designed against the conserved region located by using the clustalW alignment tool.
Large numbers of SCA3 probands were also identified.
In Kolkata, two studies, reported SCA2 as the most common mutation (14, 17), while another study done in the same region on 14 families from Bengal reported SCA3 as the most frequent mutation (18).
Yet under SCA3, the two big parties will control 10 of 11 spots.
Activation of autophagy using the mTOR inhibitor rapamycin has been shown to reduce mutant protein toxicity in models of HD and SCA3, suggesting that small molecules capable of inducing the autophagic cascade may be of therapeutic benefit.
sup][3],[4] The cardinal clinical characteristics of SCA3 include gait and stance unsteadiness, limb ataxia, dysarthria, oculomotor dysfunction, sensory disorder, pyramidal and extrapyramidal dysfunction, and so on.
sup][18],[19] These data imply that NGF may have neuroprotective effects on cerebellar neurons and hence might serve as a therapeutic candidate of SCA3.