Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

2021 ◽  
Author(s):  
Bryn D. Webb ◽  
Anthony Evans ◽  
Thomas P. Naidich ◽  
Lynne Bird ◽  
Sumit Parikh ◽  
...  
Keyword(s):  
Intention Tremor ◽  
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 The fragile x-associated tremor and ataxia syndrome (FXTAS)

2010 ◽  
Vol 68 (5) ◽  
pp. 791-798 ◽  
Author(s):  
Leonardo Pires Capelli ◽  
Márcia Rúbia Rodrigues Gonçalves ◽  
Claudia C Leite ◽  
Egberto R Barbosa ◽  
Ricardo Nitrini ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Current Knowledge ◽  
Fragile X ◽  
Gait Ataxia ◽  
Intention Tremor ◽  
Full Mutation ◽  
Clinical Genetic ◽  
Diagnostic Aspects ◽  
Ataxia Syndrome

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.

Levetiracetam Improves Intention Tremor in Fragile X-Associated Tremor/Ataxia Syndrome

2009 ◽  
Vol 32 (1) ◽  
pp. 53-54 ◽  
Author(s):  
Riccardo Saponara ◽  
Salvatore Greco ◽  
Giuliana Proto ◽  
Teresa Trubia ◽  
Elisabetta Domina
Keyword(s):  
Fragile X ◽  
Intention Tremor ◽  
Ataxia Syndrome

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)

2021 ◽  
pp. jmedgenet-2021-107758
Author(s):  
Ellenore M Martin ◽  
Ying Zhu ◽  
Claudine M Kraan ◽  
Kishore R Kumar ◽  
David E Godler ◽  
...  
Keyword(s):  
Late Onset ◽  
Population Control ◽  
Fragile X ◽  
Control Group ◽  
Intention Tremor ◽  
Fmr1 Premutation ◽  
Onset Condition ◽  
Cgg Repeats ◽  
Ataxia Syndrome ◽  
Population Control Group

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM—CGG expansion of 55–199 repeats). Population studies estimate that between 1 in 250 and 1 in 1600 men have a PM, with up to 45% of these men suggested to develop FXTAS by age 80. We used a Bayesian approach to compare the probability of finding a specific PM genotype in an ataxia population to a population control group and found an estimated penetrance of <1% (0.031%; CI 0.007% to 0.141%) for men with ≤70 CGGs. These findings suggest that men with a PM of ≤70 CGGs, who comprise the vast majority of those with a PM, have a much lower risk of being affected with FXTAS than previously suggested. This is an issue of growing importance for accurate genetic counselling, as those with a PM of ≤70 CGGs are increasingly detected through community carrier screening or neurodevelopmental assessment programmes.

Opsoclonus-Myoclonus-Ataxia Syndrome in Children: Clinical Characteristics and Treatment Response

2016 ◽  
Vol 24 (4) ◽  
pp. 251-256
Author(s):  
조재소 ◽  
김수연 ◽  
최선아 ◽  
채종희 ◽  
임병찬 ◽  
...  
Keyword(s):  
Treatment Response ◽  
Clinical Characteristics ◽  
Ataxia Syndrome

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
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