Results 101 to 110 of about 2,807 (196)

Motor and mental dysfunction in mother–daughter transmitted FXTAS

Neurology, 2010
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neuropsychiatric degenerative disorder that occurs predominantly in male FMR1 premutation carriers. Recently, a broader FXTAS spectrum that, besides the core features of tremor and gait ataxia, also includes neuropsychiatric symptoms and neuropathy as further clinically relevant ...
Rodriguez-Revenga, L, Pagonabarraga, J, Gomez-Anson, B, Lopez-Mourelo, O, Madrigal, I, Xuncla, M, Kulisevsky, J, Mila, M   +7 more
openaire   +3 more sources

Eye Movements Reveal Impaired Inhibitory Control in Adult Male Fragile X Premutation Carriers Asymptomatic for FXTAS [PDF]

, 2014
OBJECTIVE: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (FXTAS) often accompanied by inhibitory control impairments, even in ...
Goodrich-Hunsaker, Naomi J, Simon, Tony J, McLennan, Yingratana, Zhang, Melody, Tassone, Flora, Wong, Ling M, Rivera, Susan M   +6 more
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FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome)

BACKGROUND: FXTAS Syndrome (Fragile X-Associated Tremor/Ataxia Syndrome) is a neurodegenerative disease with late onset, which manifests in men and women carrying the mutation in the FMR1 gene, located in the X-chromosome. The disease manifests with high
Ekaterina S. Ostapchuk, Yuliya S. Morozova, Maksim V. Malakhov, Vitaly V. Kuznetsov, Sona S. Chikviladze   +4 more
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Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases

, 2017
This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS).
Randi J. Hagerman, Hah, Mina, Tisch, Steve, Michael Ryan Hunsaker, Hagerman, Randi J, Lechpammer, M, Hunsaker, Michael R., Tassone, Flora, Steve Tisch, Gonzales, H, Martínez Cerdeńo, Verónica, Hilary Gonzales, Gonzales, Hilary, Verónica Martínez Cerdeńo, Ronald Joffe, Tassone, F, Michael R. Hunsaker, Joffe, Ronald, Bolitho, SJ, Pamphlett, Roger, Flora Tassone, Hagerman, Paul J., Cerdeno, VM, Paul J. Hagerman, Hunsaker, Michael Ryan, Roger Pamphlett, Hah, M, Hagerman, Randi J., Hunsaker, MR, Hagerman, RJ, Hagerman, PJ, Lechpammer, Mirna, Tisch, S ; https://orcid.org/, Mirna Lechpammer, Samuel J. Bolitho, Bolitho, Samuel J., Mina Hah, Joffe, R, Pamphlett, R, Cerdeńo, Verónica Martínez, Hagerman, Paul J, Bolitho, Samuel J   +41 more
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Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism [PDF]

, 2018
Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC).
Devyn Cotter, Flora Tassone, Lin Zhang, Jiangyi Xia, Shuja Yaqub, Jesse Doty, Xiao-Hong Wang, Yu-Qiong Niu, Jin-Chen Yang, Mei Yuan, Robert Soohoo, Randi Hagerman, John Olichney   +12 more
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Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Case Reports in Genetics, 2011
We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined significance (
Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman   +3 more
doaj   +1 more source

Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)

, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that is characterized by tremor, cerebellar ataxia, frequent falls, cognitive decline, and progressive loss of motor function.
Elizabeth Berry-Kravis (366556), Andrew McAsey, Maureen Leehey, Maureen Leehey (8447856), Elizabeth Berry-Kravis, Joan A. O’Keefe (8259825), Bichun Ouyang, Bichun Ouyang (6754522), Erin E. Robertson (8447853), Deborah A Hall, Andrew McAsey (8447859), Joan A O'Keefe, Deborah A. Hall (8447850), Erin E Robertson   +13 more
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FXTAS: Size does matter! [PDF]

Cell Cycle, 2014
Sellier, Chantal, Charlet-Berguerand, Nicolas   +1 more
openaire   +3 more sources

Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study [PDF]

, 2014
Older FMR1 premutation carriers may develop fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder manifesting cognitive deficits that often subsequently progress to dementia.
Simon, Christa, Niu, Yu-Qiong, Schneider, Andrea, John M Olichney, Hagerman, Randi J, Paul J Hagerman, Lawrence Chen, Yu-Qiong Niu, Jin-Chen Yang, Andrea Schneider, Seritan, Andreea L, Olichney, John M, Chen, Lawrence, Christa Simon, Andreea L Seritan, Yang, Jin-Chen, Shayan T Moghaddam, Randi J Hagerman, Hagerman, Paul J, Moghaddam, Shayan T   +19 more
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