Danuta Z. Loesch

Nov 26, 2024 | onlinelibrary.wiley.com | Minh Bui |Elsdon Storey |Danuta Z. Loesch |Freddy Chafota

1 Introduction Premutation in the FMR1 (Fragile X messenger ribonucleoprotein 1) gene, representing the alleles with small to moderate expansions of CGG repeats in its non-coding region, has been associated with a constellation of clinical conditions (Tassone et al. 2023). Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a late onset neurodegenerative disorder, affecting up to 75% of males carrying this allele as they get older (Hagerman et al. 2001; Jacquemont et al. 2004) is the most severe.