Results 11 to 20 of about 204 (76)

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 ...
Randi J. Hagerman, Si Jie Tang, Dragana Protic   +2 more
exaly   +4 more sources

Fragile X-Associated Neuropsychiatric Disorders: A Case Report [PDF]

Future Neurology, 2019
Mutations in the Fragile X Mental Retardation 1 (FMR1) gene create a spectrum of developmental disorders in children in addition to neurodegenerative problems in older populations. Two types of mutations are recognized in the FMR1 gene. The full mutation
Randi J. Hagerman, Maria Salcedo-Arellano, Flora Tassone   +2 more
exaly   +7 more sources

Fragile X Associated Neuropsychiatric Disorders in a Male Without FXTAS [PDF]

Intractable and Rare Diseases Research, 2020
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene.
Randi J. Hagerman, Wilmar Saldarriaga, Maria Salcedo-Arellano   +2 more
exaly   +4 more sources

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation [PDF]

Scientific Reports, 2022
The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include ...
Ye Hyun Hwang, Bruce Eliot Hayward, Marwa Zafarullah, Jay Kumar, Blythe Durbin Johnson, Peter Holmans, Karen Usdin, Flora Tassone   +7 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

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review. [PDF]

Mov Disord Clin Pract
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Schmidmajer A, Páez-García S, Martínez S, Ramírez-Triana J, O'Hara-Veintimilla K, Ricaurte-Fajardo A, Cerquera-Cleves C.   +6 more
europepmc   +2 more sources

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

Clin Case Rep, 2022
This is the first documentation of immune dysregulation manifesting as uncontrolled gout in a male FXTAS premutation carrier. There is a need for further investigation of immune‐mediated disorders in male FXTAS carriers. Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this
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   +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

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS. [PDF]

Cerebellum
Pathological CGG expansions in the FMR1 gene, encompassing premutations (55–200 repeats) and full range mutations (> 200 repeats), cause a spectrum of complex and incurable disorders.
Berglund S, Hashim F, Laffita-Mesa J, Malmgren H, Anderlid BM, Granberg T, Sjöström H, Svenningsson P, Paucar M.   +8 more
europepmc   +2 more sources

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age. [PDF]

Am J Med Genet B Neuropsychiatr Genet
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Klusek J, Jenner L, Hogan AL, Friedman L, Berry-Kravis E, Tassone F, Adayev T, Fairchild AJ, Roberts JE.   +8 more
europepmc   +2 more sources