Results 31 to 40 of about 3,423 (189)

Reduced Respiratory Sinus Arrhythmia in Infants with the FMR1 Premutation. [PDF]

Int J Mol Sci
The fragile X premutation (FXpm) is caused by a CGG repeat expansion on the FMR1 gene. In adults, FXpm is linked with autonomic nervous system (ANS) dysfunction and impairment is associated with CGG repeat length. Given scant infancy research, we examined ANS functioning, via respiratory sinus arrhythmia (RSA) and interbeat interval (IBI), in 82 FXpm ...
Chase A, Hamrick L, Arnold H, Smith J, Hantman R, Cortez K, Adayev T, Tortora ND, Dahlman A, Roberts J.   +9 more
europepmc   +3 more sources

Tophaceous gout of the nose in a male FMR1 premutation carrier. [PDF]

Clin Case Rep, 2022
Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare gouty tophus in ...
Tang SJ, Giri S, Pahlavan N, Han SH, Santos ER, Espinal G, Aishworiya R, Schneider A, Hessl D, Rivera SM, Hagerman RJ.   +10 more
europepmc   +6 more sources

Postpartum Depression in Women with the FMR1 Premutation [PDF]

Current Psychiatry Reviews, 2013
Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation.We conducted a chart review of 50 women premutation carriers with major depressive ...
Roberta W, Obadia, Ana-Maria, Iosif, Andreea L, Seritan   +2 more
openaire   +2 more sources

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

Mol Genet Genomic Med, 2020
AbstractBackgroundFragile 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 term of Fragile X‐associated Neuropsychiatric Disorders (FXAND) and is separate from Fragile
Santos E, Emeka-Nwonovo C, Wang JY, Schneider A, Tassone F, Hagerman P, Hagerman R.   +6 more
europepmc   +7 more sources

Cognitive Dysfunction in FMR1 Premutation Carriers [PDF]

Current Psychiatry Reviews, 2013
Premutation carriers of the fragile X mental retardation gene (especially men) older than 50 may develop a neurodegenerative disease, the fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers may present with varied cognitive impairments. Attention, working memory, declarative and procedural learning, information processing speed, and recall ...
Andreea, Seritan, Jennifer, Cogswell, Jim, Grigsby   +2 more
openaire   +2 more sources

Men with an FMR1 premutation and their health education needs. [PDF]

J Genet Couns, 2021
AbstractMen who carry an FMR1 premutation are at‐risk to develop a late‐onset neurodegenerative disorder called fragile X‐Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first to describe diagnostic experiences and identify specific health information needs of ...
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, Sherman SL.   +6 more
europepmc   +3 more sources

Conversion disorder in women with the FMR1 premutation [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractWomen with fragile X mental retardation (FMR1) gene premutations (55–200 CGG repeats) were until recently believed to be unaffected. It is now known that up to 8% of older female FMR1 premutation carriers develop fragile X‐associated tremor/ataxia syndrome (FXTAS). Female carriers may also develop primary ovarian insufficiency, thyroid disease,
Andreea L, Seritan, Andrea, Schneider, John M, Olichney, Maureen A, Leehey, R Scott, Akins, Randi J, Hagerman   +5 more
openaire   +2 more sources

A Unique Visual Attention Profile Associated With the FMR1 Premutation [PDF]

Frontiers in Genetics, 2021
Atypical visual attention patterns have been observed among carriers of the fragile X mental retardation gene (FMR1) premutation (PM), with some similarities to visual attention patterns observed in autism spectrum disorder (ASD) and among clinically unaffected relatives of individuals with ASD.
Molly Winston, Kritika Nayar, Emily Landau, Nell Maltman, John Sideris, Lili Zhou, Kevin Sharp, Elizabeth Berry-Kravis, Molly Losh   +8 more
openaire   +3 more sources

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females.
Grigsby, J., Cornish, K., Hocking, D., Kraan, C., Olichney, J. M., Rivera, S. M., Schneider, A., Sherman, S., Wang, J. Y., Yang, J. -C.   +9 more
openaire   +4 more sources

Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]

Journal of Analytical Research in Clinical Medicine, 2013
BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan   +1 more
doaj   +1 more source