Fragile-X syndrome is a trinucleotide-repeat–expansion disorder in which the clinical phenotype
is believed to result from transcriptional silencing of the fragile-X mental retardation 1 (…

We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X
premutation and are affected by a multisystem, progressive neurological disorder. The two main …

Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

ContextPremutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1)
gene are frequent in the general population, with estimated prevalences of 1 per 259 …

Carriers of premutation alleles (55–200 CGG repeats) of the fragile-X mental retardation 1 (FMR1)
gene are often regarded as being clinically uninvolved. However, it is now apparent …

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity
disorder, autism, and other socioemotional problems, in individuals with …

A neurological syndrome involving progressive action tremor with ataxia, cognitive decline
and generalized brain atrophy has been described recently in some adult males with pre‐…

Premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1)
are known to contribute to the fragile X phenotype through genetic instability and …

Many physicians are unaware of the many phenotypes associated with the fragile X premutation,
an expansion in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1…

Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats)
are generally spared the more serious neurodevelopmental problems associated with the …