Fragile X‐linked Mental Retardation: The Martin‐bell Syndrome

Richards, B. W.; Sylvester, P. E.; Brooker, Carol

doi:10.1111/j.1365-2788.1981.tb00115.x

Cited by 35 publications

(14 citation statements)

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“…The constriction, which served as a cytogenetic marker, was localized later in Xq27.3 [87], corresponding with the fragile site FRAXA. Richards et al [88] reanalyzed the Martin-Bell pedigree and found that in affected males a cytogenetic variation was expressed as described previously by Lubs, which they defined as a fragile site. In that moment the syndrome was denominated fragile X syndrome (OMIM #300264).…”

Section: Fmr1 Genementioning

confidence: 99%

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Barasoain

Barrenetxea

Huerta

et al. 2016

Genes

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Menopause is a period of women’s life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI. The FMR1 gene contains a highly polymorphic CGG repeat in the 5′ untranslated region of exon 1. Four allelic forms have been defined with respect to CGG repeat length and instability during transmission. Normal (5–44 CGG) alleles are usually transmitted from parent to offspring in a stable manner. The full mutation form consists of over 200 repeats, which induces hypermethylation of the FMR1 gene promoter and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally, FMR1 intermediate (45–54 CGG) and premutation (55–200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI).

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Section: Fmr1 Genementioning

confidence: 99%

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Barasoain

Barrenetxea

Huerta

et al. 2016

Genes

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“…Bell (Opitz et al, 1984; Richards et al, 1981). Their paper discussed two generations of a family in which 11 males had significant cognitive impairment.…”

Section: Fragile X Syndrome (Fxs)mentioning

confidence: 99%

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology

Grigsby

2016

The Clinical Neuropsychologist

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Objectives To provide an historical perspective and overview of the phenotypes, mechanism, pathology, and epidemiology of the fragile X-associated tremor/ataxia syndrome (FXTAS) for neuropsychologists. Methods Selective review of the literature on FXTAS. Results FXTAS is an X-linked neurodegenerative disorder of late onset. One of several phenotypes associated with different mutations of the fragile X mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and impaired executive functioning, among other features. It affects carriers of the FMR1 premutation, which may expand when passed from a mother to her children, in which case it is likely to cause fragile X syndrome (FXS), the most common inherited developmental disability. Conclusion This review briefly summarizes current knowledge of the mechanisms, epidemiology, and mode of transmission of FXTAS and FXS, as well as the neuropsychological, neurologic, neuropsychiatric, neuropathologic, and neuroradiologic phenotypes of FXTAS. Because it was only recently identified, FXTAS is not well known to most practitioners, and it remains largely misdiagnosed, despite the fact that its prevalence may be relatively high.

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“…Fragile X syndrome frequency varies from 1:4000 to 1:6000 men in Caucasian populations (Martin et al, 1980;Richards et al, 1981;Flannery et al, 1995;Turner et al, 1996;de Vries et al, 1997de Vries et al, , 1999Capelli et al, 2005;Van Esch, 2006).…”

Section: Introductionmentioning

confidence: 99%

Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism

Reis

Ferreira²,

Gomes³

et al. 2008

Genet. Mol. Res.

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ABSTRACT.A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). 75Frequency of FMR1 in ataxia, tremor or parkinsonism No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.

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Fragile X‐linked Mental Retardation: The Martin‐bell Syndrome

Cited by 35 publications

References 3 publications

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology

Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism

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