Non Coding CGG Repeat Expansion Diseases: An Update

Abstract

Unstable tandem repeat expansions are involved in a wide variety of neurological diseases which may or may not share similar clinical features. Non coding repeat expansions are known to cause amyotrophic lateral sclerosis (ALS), Fronto temporal dementia (FTD), spinocerebellar ataxias (SCA 1,2,3,6,7,17), Huntingtons disease (HD). Dentatorubro pallidoluysian atrophy (DRPLA), benign adult familial myoclonic epilepsies (BAFME), myotonic dystrophies (DM1). Spino bulbar muscular atrophy (SBMA), Friedreich ataxia (FRDA), Oculopharyngealmu scular dystrophy (OPMD), Jacobsen syndrome, Fragile XE syndrome (FRAXE) to name a few. Gene expansion repeat diseases can arise from 5”UTR, coding exons, introns or even 3”UTR region.