Intractable Rare Dis Res. 2018;7(2):79-86. (DOI: 10.5582/irdr.2018.01039)

Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia.

Vishwakarma P, Muthuswamy S, Agarwal S


Spinocerebellar ataxia (SCA) is a heterogeneous genetic disorder with overlapping clinical phenotypes arising from the degeneration of purkinje cells and other regions of the brain. There are approximately 36 different subtypes of SCA, but SCA 1, 2, 3, 6 and 7 are most prevalent in the Indian population. Many findings suggested that cerebellar Purkinje cells region may be a uniquely vulnerable neuronal cell type, and more susceptible to a wider variety of genetic or cellular problems than other neuron types. In this review we emphasized mainly five common subtypes of SCA (1, 2, 3, 6 and 7) their pathophysiology, therapeutics, drugs studies and the technical challenges in the field of molecular genetic diagnosis.

KEYWORDS: Spinocerebellar ataxia, SCA, Triple Primed PCR (TP-PCR), polyglutamine disease, Autosomal Dominant Cerebellar Ataxia (ADCA)

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