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FMR1 Premutation: Basic Mechanisms and Clinical Involvement
The Cerebellum, 2016The wide spectrum of clinical phenotypes associated with the FMR1 premutation affect more than two million people worldwide. The clinical implications have only been recognized recently despite this disorder constitutes a relevant health problem.
Montserrat, Milà +2 more
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[Premutation in myotonic dystrophy].
Nihon rinsho. Japanese journal of clinical medicine, 1999Myotonic dystrophy(MyD) is caused by the abnormal expansion of CTG repeats in the 3' untranslated region of a gene encoding a protein kinase. Although some sporadic cases of MyD have been reported, the molecular basis of the intergenerational CTG expansion from asymptomatic parents is not fully understood.
K, Komai, Y, Matsumoto, M, Takamori
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Fragile X premutation presenting as essential tremor
Journal of Neurology, Neurosurgery & Psychiatry, 2008Essential tremor (ET) is one of the most common movement disorders seen in routine neurological practice, but other diseases may mimic this condition. Here we describe a 62-year-old right-handed man with an action (kinetic) tremor fulfilling diagnostic criteria for ET which was the presenting feature of the fragile X associated tremor/ataxia syndrome ...
G, Gorman +3 more
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Arithmetic difficulties in females with the fragile X premutation
American Journal of Medical Genetics Part A, 2006AbstractFemales with the fragile X full mutation have been reported to have difficulty learning mathematics. Women with the fragile X premutation often give a history of mathematics difficulties in themselves especially with higher level math. In order to evaluate whether women with the premutation have difficulty with math, we asked women with both ...
Ave M, Lachiewicz +3 more
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Neurobehavioral phenotype in carriers of the fragile X premutation
American Journal of Medical Genetics, 2001There have been contradictory findings in the fragile X (fraX) literature about possible neurocognitive and psychological symptoms due to the fraX premutation (pM). The purpose of the present study was to investigate the relationship between CGG repeat length and neurobehavioral functioning in carriers of the fraX pM. Eighty-five female carriers of the
C, Johnston +7 more
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Mood and anxiety disorders in females with the FMR1 premutation
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008AbstractFragile X syndrome (FXS) is a model for studying the relative contributions of genetic and environmental factors to psychiatric disorders in mothers of children with disabilities. Here, we examine the frequency and predictors of mood and anxiety disorders in mothers with the FMR1 premutation.
Jane E, Roberts +7 more
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The fragile X premutation presenting as postprandial hypotension
Neurology, 2004The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder consisting of progressive intention tremor and cerebellar ataxia recently described in men with the premutation (55 to 200 CGG repeats) in the promoter region of the fragile X mental retardation 1 ( FMR1 ) gene1 and with grandchildren with fragile X syndrome (FXS).2
Pugliese P +10 more
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Common Premutations in the General Population
JAMA Neurology, 2019Monia B, Hammer, Andrew B, Singleton
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Detection of a premutation in Japanese myotonic dystrophy
Human Molecular Genetics, 1994Hidehisa Yamagata +10 more
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