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 …

Fragile X syndrome, an X-linked genetic disorder caused by a mutation in the FMR-1 gene,
is associated with a particular profile of abnormalities of behavior, learning, language, and …

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 …

Context The fragile X premutation has recently been reported to be associated with a
neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and …

We compared cognitive performance and hippocampal volumes using magnetic resonance
imaging (MRI) in adult fragile-X [fra (X)] males and females with either premutation (pM) or …

Objective.—Fragile X syndrome is caused by a mutation involving expansion of a CGG
trinucleotide repeat segment in the fragile X mental retardation—1 (FMR1) gene on the long …

Abstract Premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1
(FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian …

Objective To determine how neuroanatomic variation in children and adolescents with
fragile X syndrome is linked to reduced levels of the fragile X mental retardation‐1 protein …

It is currently thought that fragile X syndrome (FraX; the most common inherited form of
learning disability) results from having more than 200 cytosine–guanine–guanine (CGG) …

Fragile X syndrome has a characteristic behavioural and physical phenotype. Clinical
experience and case reports suggest that boys with premutations and intermediate alleles …