Results 1 to 10 of about 158 (70)

Developmental aspects of FXAND in a man with the FMR1 premutation [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella
Ellery Santos, Jun Yi Wang, Andrea Schneider   +2 more
exaly   +9 more sources

Fragile X-Associated Neuropsychiatric Disorders (FXAND) [PDF]

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J Hagerman, Dragana Protic, Akash Rajaratnam   +2 more
exaly   +9 more sources

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers [PDF]

Genes, 2022
Background: The fragile X premutation carrier state (PM) (55–200 CGG repeats in the fragile X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia (FXTAS), with current literature largely primarily investigating older ...
Ramkumar Aishworiya, Dragana Protic, Si Jie Tang   +2 more
exaly   +6 more sources

Clinical implications of somatic allele expansion in female FMR1 premutation carriers [PDF]

Scientific Reports, 2023
Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ovarian ...
Ramkumar Aishworiya, Ellery Santos, Bruce Hayward   +2 more
exaly   +3 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]

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 ...
Randi J Hagerman
exaly   +4 more sources

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy [PDF]

Orphanet Journal of Rare Diseases
Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro, Paolo Alfieri, Andrea Bosco   +2 more
exaly   +3 more sources

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]

Cells, 2023
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
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   +45 more
doaj   +2 more sources

Chronic pain, fatigue, and emotional distress in female FMR1 premutation carriers [PDF]

Frontiers in Molecular Neuroscience
IntroductionCarriers of the FMR1 gene premutation (PM) are at increased risk for Fragile X-associated PM Conditions (FXPAC). Some clinically significant symptoms can be further classified as Fragile X-associated Neuropsychiatric Disorders (FXAND).
Dragana Protic, Dragana Protic, Maja Stojkovic, Randi Hagerman, Randi Hagerman, Danijela Bascarevic, Jovana Ogrizovic, Sanja Dimitrijevic, Jovan Pesovic, Dusanka Savic-Pavicevic, Dejan Budimirovic   +10 more
doaj   +2 more sources

Optimizing single-session CBT delivery in an 8-session longitudinal therapeutic assessment (FRAX-TA) for women with FMR1 Premutation [PDF]

Frontiers in Molecular Neuroscience
BackgroundTherapeutic Assessment (TA) is a client-centered approach that uses psychological evaluation to promote therapeutic change. While TA has shown benefits across populations, its application to genetically at-risk groups remains limited.
Federica Alice Maria Montanaro, Federica Alice Maria Montanaro, Giuseppina Spano, Randi J. Hagerman, Randi J. Hagerman, Giancarlo Logroscino, Andrea Bosco   +6 more
doaj   +2 more sources

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System. [PDF]

Neuropathology
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
Shioya A, Ishii K, Sato T, Noguchi M, Tamaoka A, Saito Y.   +5 more
europepmc   +2 more sources