Results 31 to 40 of about 2,226 (164)

Advances in understanding the molecular basis of FXTAS [PDF]

Human Molecular Genetics, 2010
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain
Dolores, Garcia-Arocena, Paul J, Hagerman   +1 more
openaire   +2 more sources

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

Journal of Neurodevelopmental Disorders, 2019
Background Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui, Matthew W. Mosconi   +4 more
doaj   +1 more source

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

BMC Neurology, 2020
Background Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a “premutation (PM)” in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of
Cuiping Zhao, Yiming Liu, Yihua Wang, Hongyan Li, Bin Zhang, Yaoxian Yue, Jianyuan Zhang   +6 more
doaj   +1 more source

Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes

Scientific Reports, 2022
No proven prognosis is available for the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Artificial neural network analyses (ANN) were used to predict FXTAS progression using data from 127 adults (noncarriers and FMR1 ...
Cecilia Giulivi, Jun Yi Wang, Randi J. Hagerman   +2 more
doaj   +1 more source

FXTAS: a bad RNA and a hope for a cure [PDF]

Expert Opinion on Biological Therapy, 2008
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly identified neurodegenerative disorder due to intermediate expansion of trinucleotide CGG repeats (55 - 200 repeats) in the 5' untranslated region (UTR) of the Fragile X mental retardation 1 (FMR1) gene.
Ge, Shan, Shunliang, Xu, Peng, Jin
openaire   +2 more sources

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

Frontiers in Aging Neuroscience, 2023
IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs).
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Miriam Potrony, Miriam Potrony, Miriam Potrony, Jaume Bague, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Teresa Torres, Teresa Torres, Tamara Barcos, Tamara Barcos, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Marta Rubio, Marta Rubio, Irene Madrigal, Irene Madrigal, Irene Madrigal, Susana Puig, Susana Puig, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +30 more
doaj   +1 more source

Protein composition of the intranuclear inclusions of FXTAS [PDF]

Brain, 2005
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by premutation expansions (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. The pathologic hallmark of FXTAS is the ubiquitin-positive intranuclear inclusion found in neurons and astrocytes in broad distribution throughout the ...
C K, Iwahashi, D H, Yasui, H-J, An, C M, Greco, F, Tassone, K, Nannen, B, Babineau, C B, Lebrilla, R J, Hagerman, P J, Hagerman   +9 more
openaire   +2 more sources

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers

Brain Sciences, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation cytosine-guanine-guanine (CGG) trinucleotide repeat expansion of the FMR1 gene. FXTAS is estimated to be the most common single-gene form of
Zheng Wang, Callie Lane, Matthew Terza, Pravin Khemani, Su Lui, Walker S. McKinney, Matthew W. Mosconi   +6 more
doaj   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +2 more sources

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

BMC Neurology, 2021
Background Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions.
Megumi Toko, Tomohiko Ohshita, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Hiroshi Yamashita, Gen Sobue, Yasushi Iwasaki, Jun Sone, Hideshi Kawakami, Hirofumi Maruyama   +10 more
doaj   +1 more source