Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51025
Abstract: Biallelic mutations in ECHS1, encoding the mitochondrial enoyl‐CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia‐ataxia syndrome with hearing loss and a… read more here.
Keywords: nystagmus caused; ataxia syndrome; dystonia ataxia; torsional nystagmus ... See more keywords
Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X–Associated Tremor/Ataxia Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12942
Abstract: Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder associated with premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. FXTAS is characterized by the presence of ubiquitin‐positive inclusions… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Women with Fragile X–associated Tremor/Ataxia Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13084
Abstract: Fragile X–associated tremor and ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder linked to the FMR1 premutation. read more here.
Keywords: fragile associated; women fragile; tremor ataxia; ataxia syndrome ... See more keywords
Opsoclonus–myoclonus–ataxia syndrome in children
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10536-3
Abstract: Opsoclonus–myoclonus–ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified… read more here.
Keywords: neurology; ataxia syndrome; opsoclonus myoclonus; syndrome children ... See more keywords
Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular neurobiology"
DOI: 10.1007/s12035-021-02697-z
Abstract: Expansion of CGG trinucleotide repeats in 5' untranslated region of the FMR1 gene is the causative mutation of neurological diseases such as fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and ovarian disorder such… read more here.
Keywords: associated tremor; cgg; tremor ataxia; ataxia syndrome ... See more keywords
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?
Sign Up to like & getrecommendations! Published in 2017 at "Neurotherapeutics"
DOI: 10.1007/s13311-017-0569-0
Abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder that affects approximately 45% of male and 16% of female carriers of a fragile X mental retardation 1 (FMR1) gene premutation over the age of… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Opsoclonus myoclonus ataxia syndrome in severe acute respiratory syndrome coronavirus-2
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurovirology"
DOI: 10.1007/s13365-021-00974-0
Abstract: A patient presented with an opsoclonus-myoclonus-ataxia syndrome after a 2-week period of fever. In her work as an assistant nurse, she had been exposed to patients infected with severe acute respiratory syndrome coronavirus-2. Laboratory investigations… read more here.
Keywords: severe acute; ataxia syndrome; opsoclonus myoclonus; acute respiratory ... See more keywords
Neddylation activity modulates the neurodegeneration associated with fragile X associated tremor/ataxia syndrome (FXTAS) through regulating Sima
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2020.105013
Abstract: Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansion of CGG repeats in the 5' UTR of the fragile X mental retardation 1 (FMR1) gene. Using the well-established FXTAS Drosophila… read more here.
Keywords: fragile associated; tremor ataxia; associated tremor; ataxia syndrome ... See more keywords
Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2021.105427
Abstract: CGG expansions between 55 and 200 in the 5'-untranslated region of the fragile-X mental retardation gene (FMR1) increase the risk of developing the late-onset debilitating neuromuscular disease Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). While the science… read more here.
Keywords: fragile associated; tremor ataxia; ataxia syndrome; associated tremor ... See more keywords
FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-67946-y
Abstract: Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental… read more here.
Keywords: fragile associated; fmr1 locus; tremor ataxia; ataxia syndrome ... See more keywords
Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/s-0043-1768143
Abstract: Abstract Aim Opsoclonus–myoclonus–ataxia syndrome (OMAS) is a rare autoimmune disorder. Approximately half of the cases are associated with neuroblastoma in children. This study's aim is to review management of our cases with OMAS-associated neuroblastoma for… read more here.
Keywords: five years; omas protocol; ataxia syndrome; myoclonus ataxia ... See more keywords