ArticleMovement disorders : official journal of the Movement Disorder Society2018
Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
Article in Movement disorders : official journal of the Movement Disorder Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review.Movement disorders clinical practice · 2026Article
- CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons.Cell reports · 2024Article
- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- Sex Differences in the Speech of Persons With and Without Parkinson's Disease.American journal of speech-language pathology · 2024Article
- Evaluation of the role ofFrontiers in aging neuroscience · 2023Article
- Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome.Brain sciences · 2022Article
- Sex Differences in Parkinson's Disease: From Bench to Bedside.Brain sciences · 2022Article
- Lymphoblastoid Cell Lines as Models to Study Mitochondrial Function in Neurological Disorders.International journal of molecular sciences · 2021Review
- Upper and Lower Limb Movement Kinematics in AgingBrain sciences · 2020Article
- Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.Movement disorders clinical practice · 2020Article
- [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].Revista de neurologia · 2019Review
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Authors and funding
8 authors at 7 institutions in 2 countries.
Funding
Abstract
Background and Objective There is convincing evidence that small CGG expansion (41-54 repeats): FMR1 "gray zone" alleles (GZ) contribute to the risk of parkinsonism in males, but there is insufficient corresponding data in females. This study intends to fill this gap. Methods We screened whole-blood-derived DNA from a cohort of 601 females diagnosed with idiopathic PD, and from dry Guthrie blood spots from a local sample of 1,005 female newborns (population controls), for the size of the FMR1 CGG repeat using a PCR technique. Results We found a significant excess (8.2%) of GZ carriers compared with 5.2% in the control sample, with a P value of 0.009 for the difference in proportions. Conclusion FMR1 gray zone alleles are a significant risk factor for parkinsonism in females. These population data and occasional reports of FXTAS-like or parkinsonian manifestations in carriers suggest possible mechanisms whereby the effects of these alleles synergize with the existing pathologies underpinning parkinsonism. © 2018 International Parkinson and Movement Disorder Society.
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