Results 21 to 30 of about 2,807 (196)

Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS [PDF]

International Journal of Molecular Sciences, 2023
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects older premutation carriers (55–200 CGG repeats) of the fragile X gene. Despite the high prevalence of the FXTAS disorder, neuropathology studies of individuals affected by FXTAS are limited.
Maryam Kargar, Randi J. Hagerman, Verónica Martínez-Cerdeño   +2 more
openaire   +4 more sources

FXTAS

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, Blancher, Anne, Meissner, Wassilios G, Guyant-Maréchal, Lucie, Maltête, David, De Broucker, Thomas, Legrand, André-Pierre, Bouzenada, Hichem, Thanh, Hung Tran, Sallansonnet-Froment, Magali, Wang, Adrien, Tison, François, Roué-Jagot, Carole, Sedel, Frédéric, Charles, Perrine, Whalen, Sandra, Héron, Delphine, Thobois, Stéphane, Poisson, Alice, Lesca, Gaetan, Ouvrard-Hernandez, Anne-Marie, Fraix, Valérie, Palfi, Stephane, Habert, Marie-Odile, Gaymard, Bertrand, Dussaule, Jean-Claude, Pollak, Pierre, Vidailhet, Marie, Durr, Alexandra, Barbot, Jean-Claude, Gourlet, Véronique, Brice, Alexis, Anheim, Mathieu   +32 more
openaire   +3 more sources

Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Neurology
ObjectiveThe authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG ...
James A. Bourgeois, Andrea Schneider, Jessica Klusek, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randi J. Hagerman   +7 more
doaj   +2 more sources

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers [PDF]

Scientific Reports
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects motor and coordination pathways and is linked to swallowing and choking difficulties, which can lead to aspiration pneumonia, a leading cause of death in late-stage FXTAS. Despite their severity,
Narueporn Likhitweerawong, Federica Alice Maria Montanaro, Ellery R. Santos, Jun Yi Wang, Waralee Dejputtawat, Udayakumar Narasimhan, Jessica Klusek, Nell Maltman, Andrea Schneider, Flora Tassone, Randi J. Hagerman   +10 more
doaj   +2 more sources

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers [PDF]

Frontiers in Genetics, 2018
Approximately 30–40% of male and 8–16% of female carriers of the Fragile X premutation will develop a neurodegenerative movement disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, cognitive decline, and Parkinsonism during ...
Reem R. Al Olaby, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Andrea Schneider, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Flora Tassone, Flora Tassone   +10 more
doaj   +4 more sources

The fragile x-associated tremor and ataxia syndrome (FXTAS) A síndrome de tremor e ataxia associada ao X frágil (FXTAS) [PDF]

Arquivos de Neuro-Psiquiatria, 2010
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation.
Leonardo Pires Capelli, Márcia Rúbia Rodrigues Gonçalves, Claudia C Leite, Egberto R Barbosa, Ricardo Nitrini, Angela M Vianna-Morgante   +5 more
doaj   +2 more sources

Case Report: A 1-year progression of mediolateral gait instability during tandem walking in FXTAS [PDF]

Frontiers in Sports and Active Living
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a late-onset neurodegenerative disorder characterized by progressive motor dysfunction, including cerebellar ataxia and gait instability.
Jonathan Lee-Confer, Jonathan Lee-Confer, Jonathan Lee-Confer, Dian Baker, Dian Baker, Randi Hagerman, Nell Maltman, Megan Kobel, Rodney Imamura   +8 more
doaj   +2 more sources

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS) [PDF]

Scientific Reports, 2020
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental retardation (FMR1 ...
Marwa Zafarullah, Hiu-Tung Tang, Blythe Durbin-Johnson, Emily Fourie, David Hessl, Susan M. Rivera, Flora Tassone   +6 more
doaj   +2 more sources

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome [PDF]

Nature Communications
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansions in the FMR1 gene. While CGG repeat toxicity is established, the precise molecular mechanisms driving neurodegeneration remain unclear ...
Yulin Jin, Yiqu Cao, Wenjing Ma, Ronghua Li, Yujing Li, Yunhee Kang, Jing Huang, Michael P. Epstein, Xiangxue Guo, Junghwa Lim, Natalia Rivera, Ying Zhou, Zhexing Wen, Emily G. Allen, Peng Jin   +14 more
doaj   +2 more sources

Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation

Sensors
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait and ...
Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe   +5 more
doaj   +2 more sources