scholarly journals Neural Substrates of Executive Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): a Brain Potential Study

2012 ◽  
Vol 23 (11) ◽  
pp. 2657-2666 ◽  
Author(s):  
J.-C. Yang ◽  
S.-H. Chan ◽  
S. Khan ◽  
A. Schneider ◽  
R. Nanakul ◽  
...  
Keyword(s):  
Fragile X ◽  
Executive Dysfunction ◽  
Neural Substrates ◽  
Brain Potential ◽  
Potential Study ◽  
Ataxia Syndrome

scholarly journals Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study

2014 ◽  
Vol 39 (12) ◽  
pp. 2760-2768 ◽  
Author(s):  
Jin-Chen Yang ◽  
Yu-Qiong Niu ◽  
Christa Simon ◽  
Andreea L Seritan ◽  
Lawrence Chen ◽  
...  
Keyword(s):  
Verbal Memory ◽  
Fragile X ◽  
Double Blind ◽  
Brain Potential ◽  
Potential Study ◽  
Ataxia Syndrome

Auditory change detection in fragile X syndrome males: A brain potential study

2012 ◽  
Vol 123 (7) ◽  
pp. 1309-1318 ◽  
Author(s):  
M.J.W. Van der Molen ◽  
M.W. Van der Molen ◽  
K.R. Ridderinkhof ◽  
B.C.J. Hamel ◽  
L.M.G. Curfs ◽  
...  
Keyword(s):  
Change Detection ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Brain Potential ◽  
Potential Study ◽  
Auditory Change Detection

RNA-Binding Proteins and Translation in Neurodegenerative Disease

2020 ◽  
Author(s):  
Kent E. Duncan
Keyword(s):  
Neurodegenerative Diseases ◽  
Binding Proteins ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Fragile X ◽  
Potential Contribution ◽  
Fused In Sarcoma ◽  
Specific Mrnas ◽  
Ataxia Syndrome ◽  
Research Frontiers

Both RNA-binding proteins (RBPs) and translation are increasingly implicated in several neurodegenerative diseases, but their specific roles in promoting disease are not yet fully defined. This chapter critically evaluates the evidence that altered translation of specific mRNAs mediated by RNA-binding proteins plays an important role in driving specific neurodegenerative diseases. First, diseases are discussed where a causal role for RNA-binding proteins in disease appears solid, but whether this involves altered translation is less clear. The main foci here are TAR DNA-binding protein (TDP-43) and fused in sarcoma (FUS) in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Subsequently, diseases are presented where altered translation is believed to contribute, but involvement of RNA-binding proteins is less clear. These include Huntington’s and other repeat expansion disorders such as fragile X tremor/ataxia syndrome (FXTAS), where repeat-induced non-AUG-initiated (RAN) translation is a focus. The potential contribution of both canonical and non-canonical RBPs to altered translation in Parkinson’s disease is discussed. The chapter closes by proposing key research frontiers for the field to explore and outlining methodological advances that could help to address them.

Cerebral Microbleeds in Fragile X–Associated Tremor/Ataxia Syndrome

2021 ◽  
Author(s):  
María Jimena Salcedo‐Arellano ◽  
Jun Yi Wang ◽  
Yingratana A. McLennan ◽  
Mai Doan ◽  
Ana Maria Cabal‐Herrera ◽  
...  
Keyword(s):  
Fragile X ◽  
Cerebral Microbleeds ◽  
Ataxia Syndrome

scholarly journals Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

2020 ◽  
Vol 12 (3) ◽  
pp. 466-471
Author(s):  
Giulia Grigioni ◽  
Christian Saleh ◽  
Phillip Jaszczuk ◽  
Dorothea Wand ◽  
Stefanie Wilmes ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Neurodegenerative Disorder ◽  
Fragile X ◽  
Disease Diagnosis ◽  
Cerebellar Degeneration ◽  
Gait Ataxia ◽  
Intention Tremor ◽  
Triplet Expansion ◽  
Ataxia Syndrome

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the <i>FMR1</i>gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.

scholarly journals Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

2021 ◽  
Vol 22 (16) ◽  
pp. 8368
Author(s):  
Luis M. Valor ◽  
Jorge C. Morales ◽  
Irati Hervás-Corpión ◽  
Rosario Marín
Keyword(s):  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Fragile X ◽  
Endocrine System ◽  
Molecular Pathogenesis ◽  
Adult Women ◽  
Adult Men ◽  
Cgg Repeats ◽  
Reproductive Impairment ◽  
Ataxia Syndrome

Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-associated syndromes: the neurodevelopmental Fragile X syndrome (FXS) in children, the late-onset neurodegenerative disorder Fragile X-associated tremor-ataxia syndrome (FXTAS) that mainly affects adult men, the Fragile X-associated primary ovarian insufficiency (FXPOI) in adult women, and a variety of psychiatric and affective disorders that are under the term of Fragile X-associated neuropsychiatric disorders (FXAND). In this review, we will describe the pathological mechanisms of the adult “gain-of-function” syndromes that are mainly caused by the toxic actions of CGG RNA and FMRpolyG peptide. There have been intensive attempts to identify reliable peripheral biomarkers to assess disease progression and onset of specific pathological traits. Mitochondrial dysfunction, altered miRNA expression, endocrine system failure, and impairment of the GABAergic transmission are some of the affectations that are susceptible to be tracked using peripheral blood for monitoring of the motor, cognitive, psychiatric and reproductive impairment of the CGG-expansion carriers. We provided some illustrative examples from our own cohort. Understanding the association between molecular pathogenesis and biomarkers dynamics will improve effective prognosis and clinical management of CGG-expansion carriers.

Sign in / Sign up

Export Citation Format

Share Document