Neurological Disorders

Angmuthu Kanikannan Meena

Publications

• Research Article
  Molecular Analysis of CTG/CTA Repeats at SCA8 Locus in South Indian Population
  Author(s): Waseem Gul Lone, Subhadra Poornima, Kaipa Prabhakar Rao, Angmuthu Kanikannan Meena and Qurratulain HassanWaseem Gul Lone, Subhadra Poornima, Kaipa Prabhakar Rao, Angmuthu Kanikannan Meena and Qurratulain Hassan
  
  Spinocerebellar ataxias are a group of phenotypically and genetically heterogenous disorders characterized by progressive degeneration of the cerebellum with overlapping symptoms. A novel form of SCA has been described with triplet repeat expansions in the 3 UTR of the SCA8 gene and is caused by expansion of a CTG/CTA repeat in the ataxin-8 opposite strand gene (ATXN8OS) located on chromosome 13q21. Analysis of CTA/CTG repeats in SCA8 gene was performed in 188 ataxia patients and 100 healthy volunteers without any neurological signs or family history. The repeat length was found to be highly polymorphic. We were unable to find any individual with pathogenic repeat length in SCA8 gene, when we used the already established pathogenic repeat criteria. However, repeats >35 (4.7%) were exclusively found in patients only and none of the controls suggesting that these repeat sizes could b.. Read More»
  DOI: 10.4172/2329-6895.1000176

  Abstract PDF