Results 111 to 120 of about 2,226 (164)
Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice. [PDF]
BrainÇalışkan G +7 more
europepmc +1 more source
Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. [PDF]
Front NeurosciHuang J +8 more
europepmc +1 more source
Identification of a novel <i>CLCN2</i> homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review. [PDF]
Front GenetYu L, Jiang W, Cao L, Geng Z, Chen J.
europepmc +1 more source
FXTAS Presents With Upregulation of the Cytokines IL12 and TNFα [PDF]
Parkinsonism and Related Disorders, 2021 Fragile X Tremor and Ataxia Syndrome is a progressive neurodegenerative disorder that develops in some FMR1 premutation carriers. The objective of this study is to characterize how cytokine levels are altered in the FXTAS brain.Fresh frozen cerebellar tissue from FXTAS cases and controls was homogenized and analyzed for 12 different cytokines using a ...
Brett D Dufour +1 more
exaly +5 more sources
The Emerging Molecular Mechanisms for Mitochondrial Dysfunctions in FXTAS
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2020 Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by an expansion of 55-200 CGG repeats at 5UTR of FMR1 gene, known as premutation. The main clinical and neuropathological features of FXTAS include progressive intention tremor, gait ataxia, neuronal cell loss and presence of ubiquitin-positive ...
Rajesh Singh, Flora Tassone, Dhruv Gohel
exaly +3 more sources
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Neurology, 2012
Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS.Clinical, morphologic (brain MRI, (123)I-ioflupane SPECT), and neurophysiologic (tremor ...
Apartis, Emmanuelle +32 more
openaire +2 more sources
Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS.Clinical, morphologic (brain MRI, (123)I-ioflupane SPECT), and neurophysiologic (tremor ...
Apartis, Emmanuelle +32 more
openaire +2 more sources
2010
Recent epidemiological studies in the United States estimate the prevalence of the FMR1 premutation as ranging from 1/148 to 1/209 in women and from 1/290 to 1/468 in men, with greater variability in prevalence reported in studies internationally. Population studies investigating the prevalence of FXTAS in the general population have not been conducted
Deborah A. Hall, Sebastien Jacquemont
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Recent epidemiological studies in the United States estimate the prevalence of the FMR1 premutation as ranging from 1/148 to 1/209 in women and from 1/290 to 1/468 in men, with greater variability in prevalence reported in studies internationally. Population studies investigating the prevalence of FXTAS in the general population have not been conducted
Deborah A. Hall, Sebastien Jacquemont
openaire +1 more source
The variable phenotype of FXTAS
Neurology, 2005Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is caused by an expansion of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation gene, the FMR1 gene, on the X chromosome to more than 200 repeats (full mutation).
Christoph Kamm, Thomas Gasser
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Parkinsonism, FXTAS, and FMR1 premutations
Movement Disorders, 2004AbstractThe presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism.
Mathias, Toft +8 more
openaire +2 more sources