ArticleJournal of developmental and behavioral pediatrics : JDBP2009
Broad clinical involvement in a family affected by the fragile X premutation.
Article in Journal of developmental and behavioral pediatrics : JDBP, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed.
- Management of fragile X-associated tremor ataxia syndrome: a review for clinicians.Frontiers in neurology · 2026Review
- Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.Molecular genetics & genomic medicine · 2024Article
- Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.Frontiers in neurology · 2024Article
- Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of theFrontiers in neurology · 2019Article
- Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
- In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder.Journal of autism and developmental disorders · 2012Article
- Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.Human genetics · 2012Article
- Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.Genetic testing and molecular biomarkers · 2012Article
- Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders.Progress in neurobiology · 2012Review
- Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.Tremor and other hyperkinetic movements (New York, N.Y.) · 2012Article
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.Genome medicine · 2012Article
- A novel assay for evaluating fragile X locus repeats.The Journal of molecular diagnostics : JMD · 2011Article
- Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice.Behavioural brain research · 2011Article
- Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project.Pediatrics · 2011Article
- Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders.Journal of neuropathology and experimental neurology · 2011Article
- PSYCHIATRIC DISORDERS ASSOCIATED WITH FXTAS.Current psychiatry reviewsArticle
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
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 the premutation, such as hypothyroidism, hypertension, neuropathy, anxiety, depression, attention-deficit hyperactivity disorders, and autism spectrum disorders. The premutation is relatively common in the general population affecting 1 of 130 to 250 female individuals and 1 of 250 to 800 male individuals. Therefore, to provide appropriate treatment and genetic counseling for all of the carriers and affected individuals in a family, a detailed family history that reviews many of the disorders that are related to both the premutation and the full mutation should be carried out as exemplified in these cases. To facilitate the integration of this knowledge into clinical practice, this is the first case report that demonstrates only premutation involvement across 3 generations.
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