Results 71 to 80 of about 5,990,156 (184)

Premature ovarian failure (POF) in Brazilian fragile X carriers

Genetics and Molecular Biology, 1999
The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives ...
Angela M. Vianna-Morgante, Silvia S. Costa, Rita de C.M. Pavanello, P.A. Otto, Regina C. Mingroni-Netto   +4 more
doaj   +1 more source

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

International Journal of Neonatal Screening, 2018
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia.
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field   +8 more
doaj   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, Volume 100, Issue 1, Page 36-47, July 2026.
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 ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome [PDF]

, 2016
Several studies have demonstrated increased rates of anxiety and depressive disorders among female carriers of the fragile X premutation. However, the majority of these studies focused on mothers of children with fragile X syndrome, who experience higher
Flora Tassone, Schneider, Andrea, Hagerman, Randi, Amy Gossett, David Hessl, Susan M. Rivera, Tassone, Flora, Cindy Johnston, Andreea L. Seritan, Andrea Schneider, Seritan, Andreea L, Hessl, David, Johnston, Cindy, Randi Hagerman, Sansone, Stephanie, Gossett, Amy, Stephanie Sansone, Rivera, Susan M   +17 more
core   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Phenotypes of hypofrontality in older female fragile X premutation carriers [PDF]

, 2013
OBJECTIVE: To investigate the nature of cognitive impairments and underlying brain mechanisms in older female fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
Randi J. Hagerman, Mark Bogost, Simon, Christa, Seritan, Andreea, Flora Tassone, Schneider, Andrea, Jin‐Chen Yang, Paul J. Hagerman, Hagerman, Randi J, Tassone, Flora, Niu, Yu‐Qiong, Jim Grigsby, Bogost, Mark, Andrea Schneider, Andreea Seritan, Olichney, John M, Yang, Jin‐Chen, Christa Simon, John M. Olichney, Grigsby, Jim, Hagerman, Paul J, Yu‐Qiong Niu   +21 more
core   +1 more source

An Autopsy Case With Fragile X‐Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Ayako Shioya, Kazuhiro Ishii, Taiki Sato, Masayuki Noguchi, Akira Tamaoka, Yuko Saito   +5 more
wiley   +1 more source