{"doi":"10.1002/mds.30242","title":"Identification of <scp>GGC</scp> Repeat Expansions in <scp><i>ZFHX3</i></scp> among Chilean Movement Disorder Patients","abstract":"BACKGROUND: Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent. OBJECTIVE: Uncover the genetic etiology of suspected hereditary movement disorders. METHODS: We performed Oxford Nanopore long-read genome sequencing on 15 individuals with suspected hereditary movement disorders. Using variant calling and ancestry inference tools. RESULTS: We identified ZFHX3 GGC expansions (47-55 repeats) in 4 patients with progressive ataxia, polyneuropathy, and vermis atrophy. One presented with rapidly progressive parkinsonism-ataxia, expanding the known phenotype. Longer expansions correlated with earlier onset and severity. All carriers shared single nucleotide variants (SNVs) associated with the Swedish founder haplotype, and methylation analysis confirmed allele-specific hypermethylation. CONCLUSION: These represent the first SCA4 cases identified outside Northern Europe. Our findings highlight the value of long-read sequencing in resolving undiagnosed movement disorders. Published 2025. This article is a U.S. Government work and is in the public domain in the USA. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","journal":"Movement Disorders","year":2025,"id":525896,"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":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9359,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":570985,"name":"Abraham Moller","orcid":"0000-0002-7324-8678","position":1,"is_corresponding":false},{"id":72369,"name":"Kensuke Daida","orcid":"0000-0002-9177-9587","position":2,"is_corresponding":false},{"id":681359,"name":"Pilar Álvarez Jerez","orcid":"0000-0002-5812-1898","position":3,"is_corresponding":false},{"id":722861,"name":"Zhongbo Chen","orcid":"0000-0001-6668-7202","position":4,"is_corresponding":false},{"id":1339509,"name":"Zachary B. 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