Results 31 to 40 of about 815 (125)

Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers

Scientific Reports, 2021
FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH)
Moran Friedman-Gohas, Raoul Orvieto, Abigael Michaeli, Adva Aizer, Michal Kirshenbaum, Yoram Cohen   +5 more
doaj   +1 more source

Tophaceous gout of the nose in a male FMR1 premutation carrier

Clinical Case Reports, Volume 10, Issue 11, November 2022., 2022
This is the first documentation of immune dysregulation manifesting as uncontrolled gout in a male FXTAS premutation carrier. There is a need for further investigation of immune‐mediated disorders in male FXTAS carriers. Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this
Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han, Ellery R. Santos, Glenda Espinal, Ramkumar Aishworiya, Andrea Schneider, David Hessl, Susan M. Rivera, Randi J. Hagerman   +10 more
wiley   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity

Movement Disorders, Volume 36, Issue 7, Page 1511-1525, July 2021., 2021
Abstract X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non‐neurological signs ...
Giulia Di Lazzaro, Francesca Magrinelli, Carlos Estevez‐Fraga, Enza M. Valente, Antonio Pisani, Kailash P. Bhatia   +5 more
wiley   +1 more source

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

Molecular Genetics &Genomic Medicine, Volume 9, Issue 7, July 2021., 2021
The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception. Implementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS.
Hui Xi, Wanqin Xie, Jing Chen, Wanglan Tang, Xiuli Deng, Hua Li, Ying Peng, Dan Wang, Shuting Yang, Yanan Zhang, Ranhui Duan, Junqun Fang, Hua Wang   +12 more
wiley   +1 more source

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation

, 2022
Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by oligo/amenorrhea and hypergonadotropic hypogonadism and is caused by the expansion of the CGG repeat in the 5′UTR of Fragile X Mental Retardation 1 (FMR1). Approximately
Thomas Strowitzki, Adriana Vilkaite, Birgitta Messmer, Knut Schäkel, Katrin Hinderhofer, Xuan Phuoc Nguyen, Jens E. Dietrich, Julia Rehnitz   +7 more
core   +1 more source

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source

Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +1 more source

A 68‐year‐old man with gait instability and T2 signal abnormality in the cerebellar peduncles

, 2023
Brain Pathology, Volume 33, Issue 5, September 2023.
Vanessa L. Smith, Shih‐Hsiu J. Wang
wiley   +1 more source