Results 21 to 30 of about 4,503 (204)

Genetics and Mathematics: FMR1 premutation female carriers [PDF]

Neuropsychologia, 2012
Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills.
PRIFTIS, KONSTANTINOS, R. Pignatti, A. M. Laverda, Maria Laverda, Anna, C. Busana, Bonollo, Sabrina, Busana, Cristina, Iuculano, Teresa, Polli, Roberta, MURGIA, ALESSANDRA, R. Polli, S. Bonollo, Pignatti, Riccardo, T. Iuculano, SEMENZA, CARLO   +14 more
core   +4 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 ...
Sodhi DK, Hagerman R
doaj   +2 more sources

Neurological signs in the adult with fragile-X premutation

Neurología (English Edition), 2010
Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
J. Cabanyes-Truffino
core   +4 more sources

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

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +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

premutation [PDF]

, 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, Flora Tassone, Santos, Ellery, Schneider, Andrea, Chinelo Emeka‐Nwonovo, Hagerman, Randi, Wang, Jun Yi, Emeka‐Nwonovo, Chinelo, Jun Yi Wang, Tassone, Flora, Andrea Schneider, Hagerman, Paul, Randi Hagerman, Paul Hagerman   +13 more
core   +1 more source

Premutation Females with preFXTAS. [PDF]

Int J Mol Sci
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the ...
Liani V, Torrents C, Rolleri E, Yusoff NA, Likhitweerawong N, Moore S, Tassone F, Schneider A, Santos E, Biag HMB, Bourgeois JA, Unruh KE, Mosconi MW, Hagerman RJ.   +13 more
europepmc   +5 more sources

Associated features in females with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions
Wheeler, Anne C, Bailey Jr, Donald B, Berry-Kravis, Elizabeth, Greenberg, Jan, Losh, Molly, Mailick, Marsha, Milà, Montserrat, Olichney, John M, Rodriguez-Revenga, Laia, Sherman, Stephanie, Smith, Leann, Summers, Scott, Yang, Jin-Chen, Hagerman, Randi   +13 more
openaire   +4 more sources

Language dysfluencies in females with the FMR1 premutation [PDF]

Brain and Cognition, 2013
Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group ...
Audra M, Sterling, Marsha, Mailick, Jan, Greenberg, Steven F, Warren, Nancy, Brady   +4 more
openaire   +2 more sources