Results 31 to 40 of about 3,802 (188)

Amygdala dysfunction in men with the fragile X premutation [PDF]

Brain, 2007
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
David, Hessl, Susan, Rivera, Kami, Koldewyn, Lisa, Cordeiro, John, Adams, Flora, Tassone, Paul J, Hagerman, Randi J, Hagerman   +7 more
openaire   +2 more sources

Fragile X Premutation With Atypical Symptoms at Onset [PDF]

Archives of Neurology, 2006
To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes.Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal
CELLINI, ELENA, FORLEO P, GINESTRONI, ANDREA, NACMIAS, BENEDETTA, TEDDE, ANDREA, BAGNOLI, SILVIA, MASCALCHI, MARIO, SORBI, SANDRO, PIACENTINI, SILVIA   +8 more
openaire   +3 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Neuropathic features in fragile X premutation carriers [PDF]

American Journal of Medical Genetics Part A, 2006
AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition occurring in fragile X premutation carriers, predominantly males, and resulting in CNS dysfunction including tremor, ataxia, Parkinsonism, and cognitive decline. Neuropathic signs have also been described.
Elizabeth, Berry-Kravis, Christopher G, Goetz, Maureen A, Leehey, Randi J, Hagerman, Lin, Zhang, Lexin, Li, Danh, Nguyen, Deborah A, Hall, Nicole, Tartaglia, Jennifer, Cogswell, Flora, Tassone, Paul J, Hagerman   +11 more
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Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +1 more source

The Fragile X Premutation Presenting as Essential Tremor [PDF]

Archives of Neurology, 2003
The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and ...
Maureen A, Leehey, Renato P, Munhoz, Anthony E, Lang, James A, Brunberg, Jim, Grigsby, Claudia, Greco, Sebastian, Jacquemont, Flora, Tassone, A M, Lozano, Paul J, Hagerman, Randi J, Hagerman   +10 more
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Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +1 more source

Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]

Journal of Analytical Research in Clinical Medicine, 2013
BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan   +1 more
doaj   +1 more source

FMRpolyG accumulates in FMR1 premutation granulosa cells

Journal of Ovarian Research, 2020
Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
doaj   +1 more source

A Review of Fragile X Premutation Disorders [PDF]

The Journal of Clinical Psychiatry, 2009
Fragile X premutation conditions are associated with a significant degree of psychopathology and thus are of interest to the psychiatrist. Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders.The authors review the genetic, molecular, neuroimaging, and clinical (systemic, neurologic, and ...
James A, Bourgeois, Sarah M, Coffey, Susan M, Rivera, David, Hessl, Louise W, Gane, Flora, Tassone, Claudia, Greco, Brenda, Finucane, Lawrence, Nelson, Elizabeth, Berry-Kravis, Jim, Grigsby, Paul J, Hagerman, Randi J, Hagerman   +12 more
openaire   +2 more sources