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What is Deficiency of which vitamin causes spinocerebellar ataxia: and explain in detail?
Ans: b (Vit E) Ref:Harrison, 16th ed, p. 409Vitamin E deficiency is a cause of spinocerebellar ataxia.Spinocerebellar ataxiaIt is an autosomal dominant condition. It includes spinocerebellar ataxia type 1 to type 22.They are caused by CAG triplet repeat expansions.CAG encodes glutamine and these expandedCAG triplet expansions result in expanded polyglutamine protein, termed 'ataxin'.Clinical featuresAtaxia, ophthalmoparesis, pyramidal and extra pyramidal signs.Vitamin dependant statesVitamin A- Darrier diseaseVitamin B: (thiamine)- Leigh's disease - Maple syrup diseaseNiacin- Hartnup diseasePyridoxine-- HomocystinuriaCystathionuriaXanthinuriaOxaluriaGyrate atrophy of choroidVitaminB12- Methyl malonic aciduriaVitamin C-Chediak Higashi syndrome, alkaptonuriaFolic acid-HomocystinuriaFolate reductase deficiencyFormimino transferase deficiency