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Neuroimaging Findings in FXTAS
2016In this chapter, we review the neuroimaging findings associated with fragile X-associated tremor/ataxia syndrome (FXTAS). We review what is currently known about radiological signs of the disorder including both white matter lesions and mild to severe cortical loss.
Emily S. Halket +3 more
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Treatment and Management of FXTAS
2010Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older adult carriers of the FMR1 premutation and can be associated with a broad array of clinical symptoms and presentations including tremor, ataxia, parkinsonism, executive function disturbance and dementia, psychiatric symptoms of anxiety, depression and disinhibition, peripheral neuropathy,
Elizabeth Berry-Kravis +3 more
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Clinical Neurological Phenotype of FXTAS
2010The classic presentation of fragile X-associated tremor/ataxia syndrome (FXTAS) is an aging man with progressive cerebellar gait ataxia, kinetic tremor, mild parkinsonism, cognitive decline, especially executive dysfunction and short-term memory deficiency, and peripheral neuropathy. Autonomic dysfunction and mood/anxiety disorders may be present.
Maureen A. Leehey +3 more
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Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS)
Mental Retardation and Developmental Disabilities Research Reviews, 2004AbstractCarriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full‐mutation carriers (>200 repeats) of fragile X syndrome.
Paul J, Hagerman, Randi J, Hagerman
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Genotype/Phenotype Relationships in FXTAS
2010In this chapter we explore the effects of molecular measures of the FMR1 gene on clinical, cognitive, radiological, and pathological phenotypes associated with fragile X-associated tremor/ataxia syndrome (FXTAS). In addition to reviewing the FXTAS phenotype, we will also present methods that have been developed for quantifying severity of FXTAS ...
Emily G. Allen +3 more
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FXTAS: Neuropsychological/Neuropsychiatric Phenotypes
2010This chapter reviews research on the neuropsychological and psychiatric signs and symptoms of the fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize what is known about cognition and psychological/psychiatric functioning in affected individuals, as well as asymptomatic carriers of the FMR1 premutation.
Jim Grigsby +3 more
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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
2019Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and ...
Marwa, Zafarullah, Flora, Tassone
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FXTAS syndrome: Neuropsychiatric features
Journal of the Neurological Sciences, 2021Charfi Rihab +8 more
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