Results 51 to 60 of about 2,807 (196)

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

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

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

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

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

Allopregnanolone Improves Locomotor Activity and Arousal in the Aged CGG Knock-in Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Neuroscience, 2021
Carriers of the fragile X premutation (PM) can develop a variety of early neurological symptoms, including depression, anxiety and cognitive impairment as well as being at risk for developing the late-onset fragile X-associated tremor/ataxia syndrome ...
Jared J. Schwartzer, Dolores Garcia-Arocena, Amanda Jamal, Ali Izadi, Rob Willemsen, Robert F. Berman, Robert F. Berman   +6 more
doaj   +1 more source

The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia [PDF]

, 2012
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80.
Ediati, Annastasia, Winarni, TI, Belladona, M, Mundhofir, FEP   +3 more
core   +2 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source