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 …

Advances in genome technology have facilitated a new understanding of the historical and
genetic processes crucial to rapid phenotypic evolution under domestication 1 , 2 . To …

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 …

Morphological diversity within closely related species is an essential aspect of evolution and
adaptation. Mutations in the Melanocortin 1 receptor (Mc1r) gene contribute to pigmentary …

BACKGROUND AND PURPOSE: Our purpose was to characterize the findings of MR imaging
of the brain of adult male fragile X premutation carriers with a recently identified disorder …

High-throughput genotyping technologies developed for model species can potentially
increase the resolution of demographic history and ancestry in wild relatives. We use a SNP …

Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with
core features of action tremor and cerebellar gait ataxia. Frequent associated findings …

Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative
disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) …

Objective: The authors review the genetic, molecular, neuroimaging, and clinical (systemic,
neurologic, and psychiatric) manifestations of the premutation carrier state (55–200 CGG …

Background Fragile X syndrome (FXS) is the most common inherited form of intellectual
disability, and is the most common single-gene disorder known to be associated with autism. …