Venkatesh Sowmya Devatha, Kandasamy Mahesh, Moily Nagaraj S, Vaidyanathan Radhika, Kota Lakshmi Narayanan, Adhikarla Syama, Yadav Ravi, Pal Pramod Kumar, Jain Sanjeev, Purushottam Meera
Department of Psychiatry, Genetic Testing and Counselling Clinic, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
J Genet. 2018 Mar;97(1):219-224.
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n = 100 (11.6%)) and SCA2 (n = 98 (11.3%)) followed by SCA3 (n = 40 (4.6%)), FRDA (n = 20 (2.3%)) and SCA12 (n = 8 (0.9%)).
脊髓小脑共济失调（SCAs）是一组异质性神经退行性综合征，其特征是由于小脑变性导致广泛的肌肉无力和运动缺陷。SCA综合征的患病率在世界各地有所不同，已知与高端正常等位基因内三核苷酸重复序列的不稳定性以及易感单倍型有关。我们对印度班加罗尔国家心理健康和神经科学研究所遗传咨询与检测（GCAT）诊所转诊的864名疑似SCA患者，估计了SCA1、SCA2、SCA3、SCA12和铁调素基因座处CAG或GAA重复序列的扩增大小。检测到的最常见突变是SCA1（n = 100（11.6%））和SCA2（n = 98（11.3%）），其次是SCA3（n = 40（4.6%））、Friedreich共济失调（FRDA，n = 20（2.3%））和SCA12（n = 8（0.9%））。
