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REVIEW ARTICLES
Year : 2019  |  Volume : 2  |  Issue : 2  |  Page : 48-57

Spinocerebellar ataxia type 12: An update


1 Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
2 CSIR Institute of Genomics and Integrative Biology, New Delhi, India

Correspondence Address:
Prof. Achal K Srivastava
Department of Neurology, Room No. 60 GF, CN Center, All India Institute of Medical Sciences, New Delhi 110029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AOMD.AOMD_5_19

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Spinocerebellar ataxia type 12 (SCA12) is a progressive neurological disorder with a unique prevalence in North Indian population. Trinucleotide CAG repeat expansion beyond certain threshold (>43 repeats) in the upstream region of PPP2R2B gene is associated with cerebello-cortical atrophy in disease affected individuals. Patients with SCA12 predominantly manifest unique distinguishable feature of early slow and progressive action tremor in upper extremities followed by other variable symptoms such as mild to moderate gait ataxia, speech disturbances with tremulous voice, head tremor, and autonomic abnormalities. At present, there is no definite treatment available to cure this disease and the underlying disease mechanism at molecular level largely remains undetermined. This review focuses on epidemiology, clinico-genetic advancements, and therapeutics interventions emerged over the time in this field.


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