fragile X tremor/ataxia syndrome (FXTAS)

Introduction

A mild form of fragile X syndrome

Genetics

• ssociated with folate-sensitive fragile site on the long arm of the X chromosome
• associated with defects in FMR1
• the defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region
• 55-200 CGG repeats (fewer than in fragile X syndrome)

Clinical manifestations

• patients typically do not showthe full fragile X syndrome phenotype
• have some physical features of fragile X syndrome or mild cognitive & emotional problems
• ataxia
• tremor
• dementia

More general terms

• fragile X syndrome

Database

• OMIM: https://mirror.omim.org/entry/300623