Results 121 to 130 of about 2,226 (164)

The Molecular Biology of FXTAS

2010
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult onset neurodegenerative disorder that affects many individuals, mostly males, carriers of a premutation CGG repeat expansion in the FMR1 gene (55–200 CGG repeats). FXTAS symptoms include progressive intention tremor, gait ataxia, neuropathy, psychiatric symptoms, cognitive decline, and
Flora Tassone, Paul J. Hagerman
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The Pathology of FXTAS

2016
In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has
Veronica Martinez Cerdeno, Claudia Greco
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Neuroimaging Findings in FXTAS

2016
In 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, Jun Yi Wang, David Hessl, Susan M. Rivera   +3 more
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Treatment and Management of FXTAS

2010
Fragile 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, Deborah A. Hall, Maureen A. Leehey, Randi J. Hagerman   +3 more
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Animal Models for FXTAS

2010
The use of model organisms is essential in order to understand the pathogenesis of many types of human disease, and this is particularly true for the study of genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). In reverse genetics, the functional study of a gene starts with the question of how a possible
Rob Willemsen, Yujing Li, Robert F. Berman, Judith R. Brouwer, Ben A. Oostra, Peng Jin   +5 more
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Radiological Findings in FXTAS

2010
In this chapter we review the radiological and structural brain findings associated with fragile X-associated tremor/ataxia syndrome (FXTAS). We will review what is currently known about radiological signs of the disorder including both white matter lesions and mild to severe cortical loss.
Susan M. Rivera, Glenn T. Stebbins, Jim Grigsby   +2 more
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Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

Molecular Neurobiology, 2016
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS).
M I, Alvarez-Mora, L, Rodriguez-Revenga, I, Madrigal, M, Guitart-Mampel, G, Garrabou, M, Milà   +5 more
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On the aggregation properties of FMRP – a link with the FXTAS syndrome?

The FEBS Journal, 2011
Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans. In a previous study, we described the biochemical and biophysical
Sjekloca Ljiljana, Pauwels Kris, Pastore A   +2 more
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Genotype/Phenotype Relationships in FXTAS

2010
In 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, Maureen A. Leehey, Flora Tassone, Stephanie Sherman   +3 more
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FXTAS: Neuropsychological/Neuropsychiatric Phenotypes

2010
This 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, Angela G. Brega, Andreea L. Seritan, James A. Bourgeois   +3 more
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