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JOURNAL ARTICLE
Pamela J Yao, Apostolos Manolopoulos, Erden Eren, Susan Michelle Rivera, David R Hessl, Randi Hagerman, Veronica Martinez-Cerdeno, Flora Tassone, Dimitrios Kapogiannis
OBJECTIVE: Mitochondrial impairments have been implicated in the pathogenesis of Fragile X-associated tremor/ataxia syndrome (FXTAS) based on analysis of mitochondria in peripheral tissues and cultured cells. We sought to assess whether mitochondrial abnormalities present in postmortem brain tissues of patients with FXTAS are also present in plasma neuron-derived extracellular vesicles (NDEVs) from living carriers of fragile X messenger ribonucleoprotein1 (FMR1) gene premutations at an early asymptomatic stage of the disease continuum...
May 8, 2024: Annals of Clinical and Translational Neurology
#2
JOURNAL ARTICLE
Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.
Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding
BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS...
May 7, 2024: BMC Neurology
#3
JOURNAL ARTICLE
Emily C Timm, Nicollette L Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A Hall, Joan Ann O'Keefe
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 increase fall risk. Dual-tasking (DT) cognitive-motor paradigms and challenging balance conditions may have the capacity to reveal markers of FXTAS onset. Our objectives were to determine the impact of dual-tasking and sensory and stance manipulation on balance in FXTAS and potentially detect subtle postural sway deficits in FMR1 PMCs who are asymptomatic for signs of FXTAS on clinical exam...
April 18, 2024: Sensors
#4
JOURNAL ARTICLE
Dhairya A Lakhani, Amit K Agarwal, Erik H Middlebrooks
Fragile X tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder characterized by premutation expansion of fragile X mental retardation 1 (FMR1) gene. It is a common single-gene cause of tremor, ataxia, and cognitive decline in adults. FXTAS affects the central, peripheral and autonomic nervous systems, leading to a range of neurological symptoms from dementia to dysautonomia. A characteristic imaging feature of FXTAS is symmetric T2 hyperintensity in the deep white matter of the cerebellar hemispheres and middle cerebral peduncle...
April 21, 2024: Neuroradiology Journal
#5
JOURNAL ARTICLE
Giovanni Pagano, Alex Lyakhovich, Federico V Pallardó, Luca Tiano, Adriana Zatterale, Marco Trifuoggi
Fragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene, leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 (FMRP). This results in neurodevelopmental deficits, including autistic spectrum conditions. On the other hand, Fragile X-associated tremor/ataxia syndrome (FXTAS) is a distinct disorder caused by the premutation in the FMR1 gene. FXTAS is associated with elevated levels of FMR1 mRNA, leading to neurodegenerative manifestations such as tremors and ataxia...
April 5, 2024: Molecular Biology Reports
#6
REVIEW
YeEun Tak, Andrea Schneider, Ellery Santos, Jamie Leah Randol, Flora Tassone, Paul Hagerman, Randi J Hagerman
Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 ( FMR1 ) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack of methylation are rare, with little literature about the cognitive and behavioral phenotypes of these individuals...
March 3, 2024: Genes
#7
JOURNAL ARTICLE
Yi-Ju Tseng, Amy Krans, Indranil Malik, Xiexiong Deng, Evrim Yildirim, Sinem Ovunc, Elizabeth M H Tank, Karen Jansen-West, Ross Kaufhold, Nicolas B Gomez, Roger Sher, Leonard Petrucelli, Sami J Barmada, Peter K Todd
A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS). These GC-rich repeats form RNA secondary structures that support repeat-associated non-AUG (RAN) translation of toxic proteins that contribute to disease pathogenesis. Here we assessed whether these same repeats might trigger stalling and interfere with translational elongation...
February 27, 2024: Nucleic Acids Research
#8
YeEun Tak, Flora Tassone, Randi J Hagerman
BACKGROUND: Vestibular migraine (VM) is one of the most common causes of recurrent vertigo and presents with a history of spontaneous or positional vertigo with a history of migraine headaches. While research has identified a high prevalence of migraine headaches and vestibular deficits among fragile X premutation carriers, there has been no discussion about VM within this population. OBJECTIVE: This case series and review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation...
January 16, 2024: Journal of Clinical Medicine
#9
JOURNAL ARTICLE
Pedro Henrique Almeida Fraiman, Thiago Yoshinaga Tonholo Silva, Victor Hugo Rocha Marussi, João Bosco de Oliveira, Orlando G P Barsottini, José Luiz Pedroso
No abstract text is available yet for this article.
February 2024: Parkinsonism & related Disorders
#10
JOURNAL ARTICLE
Heather Wood
No abstract text is available yet for this article.
January 2, 2024: Nature Reviews. Neurology
#11
JOURNAL ARTICLE
Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar
No abstract text is available yet for this article.
February 2024: Parkinsonism & related Disorders
#12
JOURNAL ARTICLE
Maryam Kargar, Randi J Hagerman, Verónica Martínez-Cerdeño
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. We performed hematoxylin and eosin (H&E) staining in the hippocampus of 26 FXTAS cases and analyzed the tissue microscopically. The major neuropathological characteristics were white matter disease, intranuclear inclusions in neurons and astrocytes, and neuron loss...
December 8, 2023: International Journal of Molecular Sciences
#13
JOURNAL ARTICLE
Ellery Santos, Courtney Clark, Hazel Maridith B Biag, Si Jie Tang, Kyoungmi Kim, Matthew D Ponzini, Andrea Schneider, Cecilia Giulivi, Federica Alice Maria Montanaro, Jesse Tran-Emilia Gipe, Jacquelyn Dayton, Jamie L Randol, Pamela J Yao, Apostolos Manolopoulos, Dimitrios Kapogiannis, Ye Hyun Hwang, Paul Hagerman, Randi Hagerman, Flora Tassone
Fragile X (FMR1) premutation is a common mutation that affects about 1 in 200 females and 1 in 450 males and can lead to the development of fragile-X-associated tremor/ataxia syndrome (FXTAS). Although there is no targeted, proven treatment for FXTAS, research suggests that sulforaphane, an antioxidant present in cruciferous vegetables, can enhance mitochondrial function and maintain redox balance in the dermal fibroblasts of individuals with FXTAS, potentially leading to improved cognitive function. In a 24-week open-label trial involving 15 adults aged 60-88 with FXTAS, 11 participants successfully completed the study, demonstrating the safety and tolerability of sulforaphane...
December 5, 2023: Cells
#14
JOURNAL ARTICLE
David Hessl, Karina Mandujano Rojas, Emilio Ferrer, Glenda Espinal, Jessica Famula, Andrea Schneider, Randi Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Men with fragile X-associated tremor/ataxia syndrome (FXTAS) often develop executive dysfunction, characterized by disinhibition, frontal dyscontrol of movement, and working memory and attention changes. Although cross-sectional studies have suggested that earlier executive function changes may precede FXTAS, the lack of longitudinal studies has made it difficult to address this hypothesis. OBJECTIVE: To determine whether executive function deterioration experienced by premutation carriers (PC) in daily life precedes and predicts FXTAS...
December 20, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
#15
JOURNAL ARTICLE
Brett D Dufour, Trevor Bartley, Erin McBride, Erik Allen, Yingratana A McLennan, Randi J Hagerman, Verónica Martínez-Cerdeño
OBJECTIVE: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset progressive genetic neurodegenerative disorder that occurs in FMR1 premutation carriers. The temporal, spatial, and cell-type specific patterns of neurodegeneration in the FXTAS brain remain incompletely characterized. Intranuclear inclusion bodies are the neuropathological hallmark of FXTAS, which are largest and occur most frequently in astrocytes, glial cells that maintain brain homeostasis. Here, we characterized neuropathological alterations in astrocytes in multiple regions of the FXTAS brain...
December 8, 2023: Annals of Neurology
#16
JOURNAL ARTICLE
Heather Fielding-Gebhardt, Shannon E Kelly, Kathryn E Unruh, Lauren M Schmitt, Stormi L Pulver, Pravin Khemani, Matthew W Mosconi
Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these disorders. While FXTAS is more common in males than females, females can develop the disease, and some evidence suggests that patterns of impairment may differ across sexes. Few studies include females with symptoms of FXTAS, and as a result, little information is available on key phenotypes for tracking disease risk and progression in female premutation carriers...
2023: Frontiers in Human Neuroscience
#17
JOURNAL ARTICLE
Elena Capacci, Silvia Bagnoli, Giulia Giacomucci, Costanza Maria Rapillo, Alessandra Govoni, Valentina Bessi, Cristina Polito, Irene Giotti, Alice Brogi, Elisabetta Pelo, Sandro Sorbi, Benedetta Nacmias, Camilla Ferrari
Cerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of cerebellar syndromes, we enrolled 66 unrelated Italian ataxic patients and described the distribution of the different etiology of their syndromes and the frequency of IAs...
October 31, 2023: Cerebellum
#18
JOURNAL ARTICLE
Maria Isabel Alvarez-Mora, Glòria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in adult FMR1 premutation carriers. The neuropathological hallmark of FXTAS is an intranuclear inclusion in neurons and astrocytes. Nearly 200 different proteins have been identified in FXTAS inclusions, being the small ubiquitin-related modifier 2 (SUMO2), ubiquitin and p62 the most highly abundant. These proteins are components of the protein degradation machinery. This study aimed to characterize SUMO2/3 expression levels and autophagy process in human postmortem brain samples and skin fibroblast cultures from FXTAS patients...
September 26, 2023: Cells
#19
JOURNAL ARTICLE
Emre Kul, Oliver Stork
UNLABELLED: Trehalose is a naturally occurring sugar found in various food and pharmaceutical preparations with the ability to enhance cellular proteostasis and reduce the formation of toxic intracellular protein aggregates, making it a promising therapeutic candidate for various neurodegenerative disorders. OBJECTIVES: Here, we explored the effectiveness of nutritional trehalose supplementation in ameliorating symptoms in a mouse model of Fragile X-associated tremor/ataxia syndrome (FXTAS), an incurable late onset manifestation of moderately expanded trinucleotide CGG repeat expansion mutations in the 5' untranslated region of the fragile X messenger ribonucleoprotein 1 gene ( FMR1 )...
September 30, 2023: Nutritional Neuroscience
#20
REVIEW
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D Archibald, Anna Baud, Ted W Brown, Dejan B Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V Gabis, Samantha J Grudzien, Deborah A Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R Frank Kooy, Claudine M Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M Miller, Federica Alice Maria Montanaro, Matthew W Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M Rivera, Katharine Shelly, Peter K Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J Hagerman
The premutation of the fragile X messenger ribonucleoprotein 1 ( FMR1 ) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins...
September 21, 2023: Cells
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