Gene

Fragile X syndrome

Neuroscience

Biology

Ataxia

X chromosome

Genetics

Trinucleotide repeat expansion

Pathological

Medicine

Allele

Disease

FMR1

Pathology

Fragile x

Neurobiology of Disease

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 presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.

Fragile X syndrome and associated disorders: Clinical aspects and pathology