Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
Nils Peters1, Christoph Kamm, Friedrich Asmus
1Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.
Abstract:
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.
More Related Videos
11:10Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
Published on: July 6, 2022
10:59Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
Published on: June 6, 2025
Related Concept Videos
Pedigree Analysis
X-linked Traits
Sex-linked Disorders
X-linked Traits
Sex Linked Disorders
Alterations in Muscle Tone lll
