Results 11 to 20 of about 185 (76)

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   +3 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.
Ana Maria Cabal-Herrera, Wilmar Saldarriaga, Maria Jimena Salcedo-Arellano   +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
Maria Jimena Salcedo-Arellano, Flora Tassone, Randi J Hagerman   +2 more
exaly   +4 more sources

Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Neurology
ObjectiveThe authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG ...
James A. Bourgeois, Andrea Schneider, Jessica Klusek, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randi J. Hagerman   +7 more
doaj   +2 more sources

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga   +1 more
exaly   +3 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

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

Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria. [PDF]

Clin Genet
Our study revealed that Nigerian doctors had limited knowledge and perceptions of FXS and FXPAC. However, those with better knowledge showed significantly improved perceptions. Encouragingly, most participants were eager to suggest ways to enhance doctors' understanding and management of these conditions.
Mbachu CNP, Hagerman R, Eseigbe E, Odita A, Mbachu I, Ilikanu S, Akowundu K, Ndukwu C, Echezona M, Okereke O, Echendu S, Udigwe I.   +11 more
europepmc   +2 more sources

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report. [PDF]

Case Rep Genet
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5′UTR (untranslated region ...
Hasan H, Santos ER, Amrei SAM, Tassone F, Randol JL, Hagerman P, Hagerman RJ.   +6 more
europepmc   +2 more sources