Abstract
Repeat expansion disorders are a group of clinically, pathologically, and genetically heterogeneous disease that are caused by expansions of short tandem repeats (STR). More than 40 repeat expansion disorders have been identified, predominantly present with neurological findings like ataxia. Diagnostic identification of repeat expansions disorders can be challenging due to the phenotypic overlap between the different STRs and the variation in penetrance and age of onset contributed by the repeat size and the impact of modifier genes.
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