AFF2 Repeat Expansion as a Fragile X‐Associated Tremor/Ataxia Syndrome Mimic: Expanding the Phenotypic Spectrum of Fragile XE Syndrome
- 7 October 2026
- journal article
- case report
- Published by Wiley in Movement Disorders Clinical Practice
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Repeat expansion disordersPractical Neurology, 2024
- Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisThe Lancet Neurology, 2024
- Widening the Phenotype of Fragile‐X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two PatientsMovement Disorders Clinical Practice, 2024
- Dystonia in a Female Fragile X Premutation CarrierMovement Disorders Clinical Practice, 2021
- The Neglected Fragile X Mutations: FRAXE and FRAXF2007
- FMR3 is a novel gene associated withFRAXE CpG island and transcriptionally silent in FRAXE full mutationsJournal of Medical Genetics, 2000
- Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardationCell, 1993
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.Journal of Medical Genetics, 1993
- Characterisation of a new rare fragile site easily confused with the fragile XHuman Molecular Genetics, 1992
- Two families with Xq27.3 fragility, no detectable insert in the FMR‐1 gene, mild mental impairment, and absence of the Martin‐Bell phenotypeAmerican Journal of Medical Genetics, 1992