ArticleMovement disorders clinical practice2020
Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.
Article in Movement disorders clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation.BMJ case reports · 2026Article
- Neurodevelopmental origins of age-related neurodegenerative diseases.EBioMedicine · 2026Review
- Concomitant Pathologies and Their Impact on Parkinson Disease: A Narrative Overview of Current Evidence.International journal of molecular sciences · 2025Review
- Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).International journal of molecular sciences · 2025Article
- Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.Molecular genetics & genomic medicine · 2024Article
- Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome.Annals of clinical and translational neurology · 2024Article
- Review
- Sex and Brain: The Role of Sex Chromosomes and Hormones in Brain Development and Parkinson's Disease.Cells · 2023Review
- Wearable and Invisible Sensor Design for Eye-Motion Monitoring Based on Ferrofluid and Electromagnetic Sensing Technologies.Bioengineering (Basel, Switzerland) · 2023Article
- The polyG diseases: a new disease entity.Acta neuropathologica communications · 2022Review
- A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022Review
- Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.Frontiers in neuroscience · 2021Article
- Upper and Lower Limb Movement Kinematics in AgingBrain sciences · 2020Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome.Frontiers in neurologyReview
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundFragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (
objectiveTo describe the frequency of concomitant PD in FXTAS.
methodsWe reviewed the medical record of 40 deceased patients diagnosed with FXTAS and performed a pathology analysis to confirm both FXTAS and PD.
resultsClinical histories indicated that 5 FXTAS patients were diagnosed with idiopathic PD and 2 with atypical parkinsonian syndrome. After pathological examination, we found that 7 patients in the PD clinical diagnosis group had dopaminergic neuronal loss; however, only 2 of 7 presented Lewy bodies (LBs) in the substantia nigra. Therefore, a total of 5% of the 40 cohort patients met the pathologic criteria for the concomitant diagnosis of FXTAS and PD. In addition, 2 patients not clinically diagnosed with PD also had nigral neuronal loss with LBs in substantia nigra. In total 10% of these 40 patients had LBs.
conclusionThis report expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS and the concept that the parkinsonism found in FXTAS is sometimes indistinguishable from PD. We propose that
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