2008
DOI: 10.4238/vol7-1gmr357
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Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism

Abstract: 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 th… Show more

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Cited by 21 publications
(15 citation statements)
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“…A subsequent study, which compared 903 Caucasian males with either early and late onset PD or essential tremor to earlier population norms from French Canadians, also reported no significant excess of GZ allele (45–54) carriers . One other study compared only 66 male patients (with non‐specified parkinsonism) to 74 normal controls from the same population and, again, reported no association .…”
Section: Discussionmentioning
confidence: 92%
“…A subsequent study, which compared 903 Caucasian males with either early and late onset PD or essential tremor to earlier population norms from French Canadians, also reported no significant excess of GZ allele (45–54) carriers . One other study compared only 66 male patients (with non‐specified parkinsonism) to 74 normal controls from the same population and, again, reported no association .…”
Section: Discussionmentioning
confidence: 92%
“…MRI can show hyperintensities of the medial cerebellar peduncle and within the corpus callosum [47]. We have reviewed eight studies that sought to address the frequency of the FMR1 premutation in patients with unexplained ataxia [48][49][50][51][52][53][54][55]. In a recent study of 22 patients with FXTAS, 43% had a negative family history [18].…”
Section: Recommendationmentioning
confidence: 99%
“…Associated clinical features of FXTAS include cognitive decline, Parkinsonism, peripheral neuropathy, and autonomic dysfunction [23, 35, 36, 38, 46, 54, 55, 61, 67, 77]. The neuropathological hallmark of FXTAS is the presence of eosinophilic, ubiquitin-positive intranuclear inclusions in both neurons and astroglia throughout brain upon post mortem histological analysis [3034, 77].…”
Section: Introductionmentioning
confidence: 99%