Spinocerebellar ataxia type 2

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients

F. Calì, Chiavetta, V., Ragalmuto, A., Vinci, M., Ruggeri, G., Schinocca, P., and Romano, V., Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients, vol. 12, pp. 1176-1181, 2013.

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives.

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