Results 61 to 70 of about 8,344 (152)

Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report [PDF]

, 2022
People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS).
Ocak, Özgül, Sılan, Fatma
core   +1 more source

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation

JACC: Case Reports, 2020
This paper reports 2 cases of female carriers of the FMR1 premutation for developing spontaneous coronary artery dissection (SCAD). These women had classical presentations of premutation symptoms, including anxiety, depression, and connective tissue ...
Forrest J. McKenzie, BS, Nattaporn Tassanakijpanich, MD, Kelly C. Epps, MD, S. Kimara March, MD, Randi J. Hagerman, MD   +4 more
doaj   +1 more source

Functional Recovery in Refractory Lower‐Limb Complex Regional Pain Syndrome Following KAFO‐Assisted Rehabilitation: A Longitudinal Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
Overview of the clinical course, KAFO‐assisted rehabilitation, and functional outcomes in refractory lower‐limb CRPS. ABSTRACT To describe the longitudinal functional recovery of a patient with refractory lower‐limb complex regional pain syndrome (CRPS), a disabling condition associated with pain and motor dysfunction, following individualized KAFO ...
Humberto Marreiros
wiley   +1 more source

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families [PDF]

, 2017
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may ...
Riley, Catharine, Catharine Riley, Anne Wheeler, Marsha Mailick, Melissa Raspa, Hagerman, Randi, Raspa, Melissa, Wheeler, Anne, Randi Hagerman, Mailick, Marsha   +9 more
core   +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

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +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

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford, Caroline Jennings, Anne Slavotinek   +2 more
wiley   +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

Prevalence and implications of fragile X premutation screening in Thailand

Scientific Reports
The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially ...
Areerat Hnoonual, Sunita Kaewfai, Chanin Limwongse, Pornprot Limprasert   +3 more
doaj   +1 more source