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Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.

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العنوان: Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.
المؤلفون: Salcedo-Arellano MJ; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, United States., Sanchez D; Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, United States.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, United States., Wang JY; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States.; Center for Mind and Brain, University of California, Davis, Davis, CA, United States., McLennan YA; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States., Clark CJ; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States., Juarez P; Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, United States.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, United States., Schneider A; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States., Tassone F; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States.; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, United States., Hagerman RJ; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States., Martínez-Cerdeño V; Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA, United States.; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, United States.; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, United States.
المصدر: Frontiers in neuroscience [Front Neurosci] 2021 Sep 17; Vol. 15, pp. 720253. Date of Electronic Publication: 2021 Sep 17 (Print Publication: 2021).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Lausanne : Frontiers Research Foundation
مستخلص: This case documents the co-occurrence of the fragile X-associated tremor ataxia syndrome (FXTAS) and Alzheimer-type neuropathology in a 71-year-old premutation carrier with 85 CGG repeats in the fragile X mental retardation 1 ( FMR1) gene, in addition to an apolipoprotein E ( APOE) ε4 allele. FXTAS and Alzheimer's Disease (AD) are late-onset neurodegenerative diseases that share overlapping cognitive deficits including processing speed, working memory and executive function. The prevalence of coexistent FXTAS-AD pathology remains unknown. The clinical picture in this case was marked with rapid cognitive decline between age 67 and 71 years in addition to remarkable MRI changes. Over the 16 months between the two clinical evaluations, the brain atrophied 4.12% while the lateral ventricles increased 26.4% and white matter hyperintensities (WMH) volume increased 15.6%. Other regions atrophied substantially faster than the whole brain included the thalamus (-6.28%), globus pallidus (-10.95%), hippocampus (-6.95%), and amygdala (-7.58%). A detailed postmortem assessment included an MRI with confluent WMH and evidence of cerebral microbleeds (CMB). The histopathological study demonstrated FXTAS inclusions in neurons and astrocytes, a widespread presence of phosphorylated tau protein and, amyloid β plaques in cortical areas and the hippocampus. CMBs were noticed in the precentral gyrus, middle temporal gyrus, visual cortex, and brainstem. There were high amounts of iron deposits in the globus pallidus and the putamen consistent with MRI findings. We hypothesize that coexistent FXTAS-AD neuropathology contributed to the steep decline in cognitive abilities.
Competing Interests: RJH has received funding from Zynerba, Ovid, and the Azrieli Foundation for carrying out treatment studies in patients with fragile X syndrome (FXS). She has also consulted with Fulcrum, Ovid, and Zynerba regarding treatment studies in individuals with FXS. FT has received funds from Asuragen and Zynerba for studies in FXS and associated disorders. VM-C has consulted with Paxmedica and received funding from Zynerba for organization of conferences in FXS and associated disorders. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Salcedo-Arellano, Sanchez, Wang, McLennan, Clark, Juarez, Schneider, Tassone, Hagerman and Martínez-Cerdeño.)
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معلومات مُعتمدة: R01 HD036071 United States HD NICHD NIH HHS; R01 NS107131 United States NS NINDS NIH HHS; TL1 TR001861 United States TR NCATS NIH HHS; UL1 TR001860 United States TR NCATS NIH HHS
فهرسة مساهمة: Keywords: APOE ε4 allele; Alzheimer-type dementia; CGG expansion; FMR1 gene; FXTAS; cognitive decline; neurodegeneration
تواريخ الأحداث: Date Created: 20211004 Latest Revision: 20240411
رمز التحديث: 20240411
مُعرف محوري في PubMed: PMC8485779
DOI: 10.3389/fnins.2021.720253
PMID: 34602969
قاعدة البيانات: MEDLINE
الوصف
تدمد:1662-4548
DOI:10.3389/fnins.2021.720253