2003
DOI: 10.1086/374321
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Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Abstract: We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness,… Show more

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Cited by 716 publications
(850 citation statements)
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“…3 Expansions of about 55-200 repeats, called premutation alleles, are associated with a significant elevation of FMR1 mRNA levels, 4 and it has been known that carriers of FMR1 premutation have a risk of developing fragile X-associated tremor/ataxia syndrome, a late-onset neurodegenerative disorder. 5,6 Premutation alleles are generally unstable, resulting in an expansion of the CGG repeat sequence when passed from mother to child. Offspring of female premutation carriers is at risk of having FXS.…”
Section: Introductionmentioning
confidence: 99%
“…3 Expansions of about 55-200 repeats, called premutation alleles, are associated with a significant elevation of FMR1 mRNA levels, 4 and it has been known that carriers of FMR1 premutation have a risk of developing fragile X-associated tremor/ataxia syndrome, a late-onset neurodegenerative disorder. 5,6 Premutation alleles are generally unstable, resulting in an expansion of the CGG repeat sequence when passed from mother to child. Offspring of female premutation carriers is at risk of having FXS.…”
Section: Introductionmentioning
confidence: 99%
“…Female carriers of the PM are at increased risk of developing premature ovarian failure (POF) (Sherman, 2000). PM carriers also are at risk for fragile X-associated tremor/ataxia syndrome (FXTAS), which has been observed in elderly men over age 50, and less often in female PM carriers (Hagerman et al, 2001;Hagerman and Hagerman, 2002;Jacquemont et al, 2003).…”
Section: Introductionmentioning
confidence: 99%
“…This is a neurodegenerative disease mainly characterized by intention tremor and cerebellar ataxia that tends to occur as a function of age, as evidenced by Jacquemont et al (2004) [33] who found an increased prevalence of FXTAS among men with the premutation in each subsequent decade of life after age 50. Besides ataxia and tremor, FXTAS may also present with short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction [34].…”
Section: Neuropsychiatric and Muscular Involvementmentioning
confidence: 99%
“…After that, several studies that have addressed the expanded phenotype seen among the specific population of women carriers of the FMR1 premutation have revealed some evidence regarding the neurological compromise of these patients. Coffey et al (2008) [36] studied 146 women carriers of the premutation trying to determine their overall phenotype and divided them into a non-FXTAS (n = 128) and a FXTAS (n = 18) group, the latter being composed of patients with probable or definite FXTAS according to the classification criteria in Jacquemont et al (2003) [34]. The author found that those patients in the FXTAS group had a greater comorbidity when compared with controls.…”
Section: Neuropsychiatric and Muscular Involvementmentioning
confidence: 99%