Genetic analysis of the first SCA36 family showing clinical anticipation

Spinocerebellar ataxia type 36 (SCA36) is an autosomal dominant, slowly progressive cerebellar syndrome caused by unstable large expansion of GGCCTG hexanucleotide repeat (normal: 3–14 repeats, disease: 650–2500 repeats) in the first intron of the nucleolar protein 56 gene [1–3]. I read with interest the article by Ota et al. [4], which genetically characterized the first Japanese SCA36 family showing clinical anticipation. So far, there had been no or little evidence of association between number of GGCCTG repeat and age at onset of SCA36 patients.

from Journal of the Neurological Sciences https://ift.tt/300889B