We aimed to perform a comprehensive systematic review of the existing ataxia scales. We
described the disorders for which the instruments have been validated and used, the time …

The CGG‐repeat present in the 5′ UTR of the FMR1 gene is unstable upon transmission to
the next generation. The repeat is up to 55 CGGs long in the normal population. In fragile X …

Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5′
un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a …

The objective of this paper was to assess the phenotypic variance in patients with the Fragile
X-associated Tremor Ataxia Syndrome (FXTAS) and to further elucidate genotype …

Objective: Clinical observations and a limited number of research studies provide evidence
that the fragile X premutation may confer risk for autism, executive dysfunction, and …

Objective: Memantine, an uncompetitive N-methyl-d-aspartate receptor antagonist, is
currently approved by the US Food and Drug Administration for the treatment of moderate to …

Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a “premutation” size 55–
200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor …

Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a “premutation”(PM) size
CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Cerebellar gait …

Several studies have demonstrated increased rates of anxiety and depressive disorders
among female carriers of the fragile X premutation. However, the majority of these studies …

For years, premutation-carriers of fragile X-syndrome (FXS) were assumed free from any
deleterious phenotype. In this review, we discuss the current literature on neurocognitive …