{"doi":"10.1002/mds.21347","title":"Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the <i>FMR1</i> premutation CGG repeat","abstract":"<jats:title>Abstract</jats:title><jats:p>Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the <jats:italic>FMR1</jats:italic> gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)<jats:sub>123,</jats:sub> (CGG)<jats:sub>109</jats:sub>, and (CGG)<jats:sub>91</jats:sub> triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)<jats:sub>n</jats:sub>. The carrier of the (CGG)<jats:sub>91</jats:sub> allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society</jats:p>","journal":"Movement Disorders","year":2007,"id":686865,"datarank":0.4636563680037475,"base_score":3.091042453358316,"endowment":3.091042453358316,"self_citation_contribution":0.4636563680037475,"citation_network_contribution":0.0,"self_endowment_contribution":0.4636563680037475,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":21,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1794400,"name":"Márcia R. 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The carrier of the (CGG)<jats:sub>91</jats:sub> allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society</jats:p>","is_dataset_classified":null,"base_score":3.091042453358316,"endowment":3.091042453358316,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17290448","pmcid":null,"openalex_id":"https://openalex.org/W2124669325","authors":[],"funders":[],"total_grants":0,"fwci":1.7267,"citation_percentile":0.8565669,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":1},{"year":2014,"count":1},{"year":2015,"count":1},{"year":2016,"count":3},{"year":2018,"count":1},{"year":2020,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.21347","host_type":"publisher"},{"url":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.21347","host_type":"publisher"},{"url":"https://doi.org/10.1002/mds.21347","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/17290448","host_type":"repository"}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","RNA regulation and disease","Endoplasmic Reticulum Stress and Disease","Aged","Cerebellum","Family","Female","Fragile X Messenger Ribonucleoprotein 1","Fragile X Syndrome","Humans","Interleukin-4","Interleukin-5","Interleukin-6","Interleukin-8","Male","Pedigree","Siblings","Trinucleotide Repeats"],"mesh_terms":["Aged","Cerebellum","Family","Female","Fragile X Syndrome","Humans","Male","Pedigree","Interleukin-4","Interleukin-5","Interleukin-6","Interleukin-8","Trinucleotide Repeats","Siblings","Fragile X Messenger Ribonucleoprotein 1","Fragile X Mental Retardation Protein"],"keywords":["FMR1","Ataxia","Intention tremor","Fragile X syndrome","Pediatrics","Cerebellar ataxia","Medicine","Fragile x","Neurological disorder","Trinucleotide repeat expansion","Audiology","Allele","Central nervous system disease","Psychology","Psychiatry","Genetics","Internal medicine","Biology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T20:41:49.067671Z","pmid":null,"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":[]}