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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
doaj   +4 more sources

Fragile x premutation. [PDF]

J Neurodev Disord, 2014
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing ...
Tassone F, Hagerman PJ, Hagerman RJ.
europepmc   +7 more sources

Genomic studies in fragile X premutation carriers [PDF]

Journal of Neurodevelopmental Disorders, 2014
BackgroundThe FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1).
Lozano, Reymundo, Eichler, Evan E, Flora Tassone, Michael Duyzend, Dejan B Budimirovic, Budimirovic, Dejan B, Evan E Eichler, Reymundo Lozano, Hagerman, Randi J, Duyzend, Michael, Randi J Hagerman, Tassone, Flora   +11 more
core   +6 more sources

Fragile X-Associated Neuropsychiatric Disorders (FXAND) [PDF]

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   +4 more sources

FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome [PDF]

Clinical Case Reports, 2017
Key Clinical Message This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear
Verónica Martínez‐Cerdeño, Mirna Lechpammer, Stephen Noctor, Jeanelle Ariza, Paul Hagerman, Randi Hagerman   +5 more
doaj   +2 more sources

Broad clinical involvement in a family affected by the fragile X premutation [PDF]

Journal of Developmental & Behavioral Pediatrics, 2009
The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with
Randi J. Hagerman, Agustini Utari, Flora Tassone, Chonchaiya, W, Utari, A, Tassone, F, Pereira, GM, David Hessl, Hagerman, RJ, Hessl, D, Gabriela Marques Pereira, Weerasak Chonchaiya   +11 more
core   +6 more sources

Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers [PDF]

Future Neurology, 2014
Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome (FXS), is the most common heritable cause of intellectual ...
Seritan, Andreea L, Mulligan, Tua-Elisabeth, Hagerman, Randi, Wilke, Scott A, Besterman, Aaron D, Bourgeois, James A, Allison, Stephen C   +6 more
core   +6 more sources

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness. [PDF]

J Med Genet, 2022
FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems ...
Hessl D, Rosselot H, Miller R, Espinal G, Famula J, Sherman SL, Todd PK, Cabal Herrera AM, Lipworth K, Cohen J, Hall DA, Leehey M, Grigsby J, Weber JD, Alusi S, Wheeler A, Raspa M, Hudson T, Sobrian SK.   +18 more
europepmc   +2 more sources

Dystonia in a Female Fragile X Premutation Carrier. [PDF]

Mov Disord Clin Pract, 2021
Ros-Castelló V, Latorre A, Álvarez-Linera J, Martinez-Castrillo JC, Bhatia KP, Pareés I.   +5 more
europepmc   +3 more sources

Aging in Fragile X Premutation Carriers. [PDF]

Cerebellum, 2016
It is now recognized that FMR1 premutation carriers (PC) are at risk to develop a range of neurological, psychiatric, and immune-mediated disorders during adulthood. There are conflicting findings regarding the incidence of hypertension, hypothyroidism, diabetes, and cancer in these patients that warrant further study.
Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, Tassone F, Beckett L, Hagerman R.   +8 more
europepmc   +7 more sources