Spinocerebellar Ataxias in India: Three‑year Molecular Data from a Central Reference Laboratory

Neurology India
Aparna Amarendra BhanushaliBibhu R Das

Abstract

There is a great deal of heterogeneity, both phenotypically and genotypically among the autosomal dominant cerebellar ataxias (ADCA). Their prevalence also varies in different populations. Trinucleotide repeat expansions (CTG/CAG) have been shown predominantly to cause a number of ADCAs. The present study describes the frequency of spinocerebellar ataxias (SCA) and the CAG repeat sizes among the different regions of India. Molecular data from our central reference laboratory were retrospectively analyzed for SCAs 1, 2, 3, 6, 7, 10, 12, 17 and DRPLA. Correlation between age at diagnosis and the CAG repeats of the expanded and the normal alleles were tested with the Spearman correlation test. The presence of SCAs vary according to geographical regions and ethnicities; SCA 12 was detected with the highest frequency (229/901), but was restricted to a specific ethnic population, followed by SCA 2 with a positivity of 12% (101/845). SCA 3 previously known as Machado-Joseph Disease had a prevalence of 4.05% (32/789), whereas SCA 1 was diagnosed in 30/773 (3.88%). No positivity was seen for SCA 10 from the 103 samples tested and for SCA 17 from the 131 samples tested either as a part of an extended panel or stand-alone. In this report,...Continue Reading

References

Feb 18, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·K K SinhaK P Bhatia
Apr 22, 2004·Lancet Neurology·Ludger SchölsOlaf Riess
Aug 8, 2009·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J ValeP Coutinho
Sep 22, 2011·European Journal of Human Genetics : EJHG·José Miguel Laffita-MesaRoberto Rodríguez Labrada
Aug 15, 2013·The Cerebellum·Raphael Machado de CastilhosUNKNOWN Rede Neurogenetica
Nov 20, 2016·Brain : a Journal of Neurology·Achal K SrivastavaMohammed Faruq
Sep 29, 2017·Frontiers in Neurology·Luis C Velázquez-PérezJuan Fernandez-Ruiz
Jan 13, 2018·Neurology India·Rohan MahaleRangasetty Srinivasa

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Related Papers

Arquivos de neuro-psiquiatria
H Teive
Dementia & Neuropsychologia
H Teive, W Arruda
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
M MoscovichS H Subramony
© 2021 Meta ULC. All rights reserved