FMR1 premutation as a rare cause of late onset ataxia

Zühlke, C.; Budnik, A.; Gehlken, Ulrike; Dalski, Andreas; Purmann, Sabine; Naumann, Mary Ann; Schmidt, Martin J.; Bürk, Katrin; Schwinger, E.

doi:10.1007/s00415-004-0558-1

Cited by 78 publications

(51 citation statements)

References 7 publications

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“…Several studies have been performed in order to determine the real role of FXTAS in undiagnosed adult patients with movement disorders. The results obtained in European populations ranges from 0% to 4% (Brussino et al,2005;Macpherson et al, 2003;Van Esch et al, 2005;Zuhlke et al, 2004). Our studies show an estimated FXTAS prevalence of 2% among patients presenting with ataxia or movement disorders of unknown etiology , 2008b.…”

Section: Fragile X Syndrome Premutation and Fxtas Identificationsupporting

confidence: 44%

Neuroimaging in Fragile X-Associated

Rodríguez‐Revenga¹,

Gómez‐Anson²,

Granell³

et al. 2012

Neuroimaging - Clinical Applications

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Section: Fragile X Syndrome Premutation and Fxtas Identificationsupporting

confidence: 44%

Neuroimaging in Fragile X-Associated

Rodríguez‐Revenga¹,

Gómez‐Anson²,

Granell³

et al. 2012

Neuroimaging - Clinical Applications

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“…Since then, several studies reporting a smaller contribution of FMR1 premutations to neurodegenerative phenotypes were published, where FMR1 premutation frequencies ranged from 0-5%. These data are shown in Table 1 (Garcia Arocena et al, 2004;Van Esch et al, 2004;Tan et al, 2004;Zühlke et al, 2004;Biancalana et al, 2005;Brussino et al, 2005;Seixas et al, 2005;Toft et al, 2005). Some issues in these reports deserve a closer scrutiny.…”

Section: Discussionmentioning

confidence: 99%

“…The contribution of FMR1 premutation to the phenotype ataxia-tremor-parkinsonism has been only seldom addressed. Discordant results on the contribution of FMR1 premutation to these phenotypes have been published and could be attributed to the relatively broad range of phenotypes included in FXTAS as well as to ascertainment bias (MacPherson et al, 2003;Tan et al, 2004;Van Esch et al, 2004;Zühlke et al, 2004;Brussino et al, 2005;Seixas et al, 2005). Correct diagnosis would contribute to genetic counseling of these families (Tan et al, 2004;Hall et al, 2005;Kamm and Gasser, 2005).…”

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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“…Cronister et al (1991) reported a higher rate of premature ovarian failure (POF) in carrier females than in those with either full mutation expansions (>200 CGG repeats) or normal alleles; an association that has been confirmed by multiple subsequent studies [Allingham-Hawkins et al, 1999;Murray et al, 2000;Sullivan et al, 2005]. More recently, fragile X-associated tremor/ ataxia syndrome (FXTAS), a neurodegenerative movement disorder, has been reported in females with the premutation Zuhlke et al, 2004;Berry-Kravis et al, 2005;Jacquemont et al, 2005;O'Dwyer et al, 2005], although its penetrance and expression appear to be much lower than in male carriers [Jacquemont et al, 2004b]. Furthermore, females with FXTAS generally have milder involvement both neuroradiologically [Adams et al, in press] and cognitively, compared to males with FXTAS , due in part to the protective influence of the second X chromosome Berry-Kravis et al, 2005;Jacquemont et al, 2005].…”

Section: Introductionmentioning

confidence: 90%

Expanded clinical phenotype of women with the FMR1 premutation

Coffey

Cook

Tartaglia

et al. 2008

American J of Med Genetics Pt A

298

382

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Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.8 years; range, 21-78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co-morbidity, with increased prevalence of thyroid disease (P ¼ 0.0096), hypertension (P ¼ 0.0020), seizures (P ¼ 0.0077), peripheral neuropathy (P ¼ 0.0040), and fibromyalgia (P ¼ 0.0097), in addition to the typical symptoms of FXTAS-tremor (P < 0.0001) and ataxia (P < 0.0001). The non-FXTAS premutation group had more complaints of chronic muscle pain (P ¼ 0.0097), persistent paraesthesias in extremities (P < 0.0001), and history of tremor (P < 0.0123) than controls. The spectrum of clinical involvement in female carriers with FXTAS is quite broad, encompassing a number of medical co-morbidities as well as the core movement disorder. The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS. ß

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FMR1 premutation as a rare cause of late onset ataxia

Cited by 78 publications

References 7 publications

Neuroimaging in Fragile X-Associated

Neuroimaging in Fragile X-Associated

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

Expanded clinical phenotype of women with the FMR1 premutation

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