Title: Early Onset Spinocerebellar Ataxia Type 2 from South India: A Case Report
Authors: Suraj Menon M, Shaji CV, Kabeer KA, Ram Mohan K
DOI: http://dx.doi.org/10.18535/jmscr/v4i4.62
Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant ataxia characterized by progressive cerebellar ataxia, slow saccades, pyramidal findings and parkinsonism, caused by triplet CAG/CTG expansion in the ATX2 gene in chromosome 12. Age of onset is typically in the fourth decade with 10- to 15-year disease duration. We present a case of SCA2 with symptom onset within the first decade of life without extrapyramidal features or family history of ataxia. This case highlights the varied presentations of SCA’s and the significance of genetic testing for ataxias. Keywords- SCA2, spinocerebellar ataxias, sporadic ataxia, CAG triplet repeat expansion 1. Krishna N, Mohan S, Yashavantha BS, Rammurthy A, Kiran Kumar HB, Mittal U, et al. SCA 1, SCA 2 and SCA 3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res 2007;126:465-70. 2. Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998;79:383–7. 3. Sinha KK, Jha DK, Sinha S. Spinocerebellar Ataxia (SCA 2) is the commonest among autosomal dominant cerebellar ataxia India. Ann Indian AcadNeurol 2000;3:128. 4. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet. 1997b;60:842–50. 5. Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain 2005;128:2297–303. 6. Riess O, Laccone FA, Gispert S, Schols L, Zuhlke C, Vieira-Saecker AM, et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997;1:59–64.Abstract
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