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 …

Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …

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 …

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 …

Background: There are many different white matter disorders, both inherited and acquired,
and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative
disorder that affects carriers, principally males, of premutation alleles (55–200 CGG repeats) …

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 …

This review aims to assemble many years of research and clinical experience in the fields of
neurodevelopment and neuroscience to present an up-to-date understanding of the clinical …

OBJECTIVE: To update clinicians on the reproductive implications of premutations in FMR1
(fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and …

Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …