Results 41 to 50 of about 4,503 (204)

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

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

Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers

NeuroImage: Clinical, 2020
Introduction: Premutation carriers of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease characterized by motor, cognitive, and psychiatric decline as well as cerebellar and cerebral ...
Walker S. McKinney, James Bartolotti, Pravin Khemani, Jun Yi Wang, Randi J. Hagerman, Matthew W. Mosconi   +5 more
doaj   +1 more source

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Psychiatry, 2022
Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation,
Devon Johnson, Ellery Santos, Kyoungmi Kim, Kyoungmi Kim, Matthew D. Ponzini, Matthew D. Ponzini, Yingratana A. McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman   +12 more
doaj   +1 more source

Premutation Women in an Unselected Community‐Based Cohort

, 2021
BackgroundPremutation- sized (55- 200) CGG repeat expansions in the FMR1 gene cause fragile X- associated tremor/ataxia syndrome (FXTAS). Most studies of premutation carriers utilized reverse ascertainment to identify patients, leading to a selection ...
Todd, Peter K., Leann DaWalt, Marsha R. Mailick, Arezoo Movaghar, Elizabeth M. Berry‐Kravis, Hong, Jinkuk, Berry‐kravis, Elizabeth M., Mailick, Marsha R., Brilliant, Murray H., Movaghar, Arezoo, Jaime Boero, Boero, Jaime, DaWalt, Leann, Jinkuk Hong, Peter K. Todd, Murray H. Brilliant, Deborah Hall, Hall, Deborah   +17 more
core   +1 more source

Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally-based enumeration task

Frontiers in Human Neuroscience, 2011
The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development.
Naomi Jean Goodrich-Hunsaker, Ling M Wong, Yingratana eMcLennan, Flora eTassone, Flora eTassone, Danielle eHarvey, Susan M Rivera, Susan M Rivera, Susan M Rivera, Tony J Simon, Tony J Simon   +10 more
doaj   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

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, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +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

Neuropsychiatric feature-based subgrouping reveals neural sensory processing spectrum in female FMR1 premutation carriers: A pilot study

Frontiers in Integrative Neuroscience, 2023
IntroductionFragile X Syndrome (FXS) is rare genetic condition characterized by a repeat expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where individuals with greater than 200 repeats are defined as full mutation. FXS clinical
Jordan E. Norris, Lauren M. Schmitt, Lauren M. Schmitt, Lisa A. De Stefano, Ernest V. Pedapati, Ernest V. Pedapati, Ernest V. Pedapati, Craig A. Erickson, Craig A. Erickson, John A. Sweeney, Lauren E. Ethridge, Lauren E. Ethridge   +11 more
doaj   +1 more source

premutation and FXTAS [PDF]

, 2015
The fragile X-associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS.
Randi J. Hagerman, Zukhrofi Muzar, Flora Tassone, Schneider, Andrea, Muzar, Zukhrofi, Patrick E. Adams, Hagerman, Randi J, Sultana M.H. Faradz, Adams, Patrick E, Tassone, Flora, Lozano, Reymundo, Faradz, Sultana MH, Andrea Schneider, Reymundo Lozano   +13 more
core   +1 more source