{"doi":"10.1002/mds.28559","title":"Cerebral Microbleeds in Fragile X–Associated Tremor/Ataxia Syndrome","abstract":"BACKGROUND: Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disease of late onset developed by carriers of the premutation in the fragile x mental retardation 1 (FMR1) gene. Pathological features of neurodegeneration in fragile X-associated tremor/ataxia syndrome include toxic levels of FMR1 mRNA, ubiquitin-positive intranuclear inclusions, white matter disease, iron accumulation, and a proinflammatory state. OBJECTIVE: The objective of this study was to analyze the presence of cerebral microbleeds in the brains of patients with fragile X-associated tremor/ataxia syndrome and investigate plausible causes for cerebral microbleeds in fragile X-associated tremor/ataxia syndrome. METHODS: We collected cerebral and cerebellar tissue from 15 fragile X-associated tremor/ataxia syndrome cases and 15 control cases carrying FMR1 normal alleles. We performed hematoxylin and eosin, Perls and Congo red stains, ubiquitin, and amyloid β protein immunostaining. We quantified the number of cerebral microbleeds, amount of iron, presence of amyloid β within the capillaries, and number of endothelial cells containing intranuclear inclusions. We evaluated the relationships between pathological findings using correlation analysis. RESULTS: We found intranuclear inclusions in the endothelial cells of capillaries and an increased number of cerebral microbleeds in the brains of those with fragile X-associated tremor/ataxia syndrome, both of which are indicators of cerebrovascular dysfunction. We also found a suggestive association between the amount of capillaries that contain amyloid β in the cerebral cortex and the rate of disease progression. CONCLUSION: We propose microangiopathy as a pathologic feature of fragile X-associated tremor/ataxia syndrome. © 2021 International Parkinson and Movement Disorder Society.","journal":"Movement Disorders","year":2021,"id":174234,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":23,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9621,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":420302,"name":"Jun Yi Wang","orcid":"0000-0002-1330-6987","position":1,"is_corresponding":false},{"id":260754,"name":"Yingratana McLennan","orcid":"0000-0001-8272-2012","position":2,"is_corresponding":false},{"id":713718,"name":"Mai Doan","orcid":null,"position":3,"is_corresponding":false},{"id":713719,"name":"Ana Maria Cabal‐Herrera","orcid":null,"position":4,"is_corresponding":false},{"id":23926,"name":"Sara Jiménez","orcid":"0000-0001-7103-7474","position":5,"is_corresponding":false},{"id":713720,"name":"Marisol Wolf‐Ochoa","orcid":null,"position":6,"is_corresponding":false},{"id":713214,"name":"Desiree Sanchez","orcid":"0000-0002-2837-4907","position":7,"is_corresponding":false},{"id":713215,"name":"Pablo Juárez","orcid":"0000-0002-6858-7034","position":8,"is_corresponding":false},{"id":349075,"name":"Flora Tassone","orcid":"0000-0002-6388-9180","position":9,"is_corresponding":false},{"id":389555,"name":"Blythe Durbin‐Johnson","orcid":null,"position":10,"is_corresponding":false},{"id":260756,"name":"Randi J. Hagerman","orcid":"0000-0001-5029-8448","position":11,"is_corresponding":false},{"id":260755,"name":"Verónica Martínez‐Cerdeño","orcid":"0000-0002-9613-3603","position":12,"is_corresponding":false},{"id":260752,"name":"María Jimena Salcedo‐Arellano","orcid":"0000-0002-2412-9146","position":0,"is_corresponding":true}],"reference_count":94,"raw_metadata":null,"created_at":"2026-07-18T23:46:54.772014Z","pmid":"33760253","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}