{"doi":"10.1002/mds.30087","title":"The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating <scp>FGF14</scp> Variant in a Turkish Patient","abstract":"BACKGROUND: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances. OBJECTIVES: This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene. METHODS: Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing. RESULTS: We report the first case of autosomal recessive FGF14-related cerebellar ataxia caused by a c.75del variant resulting in p.Leu26Serfs*51 truncation of the FGF14 protein. This variant was found in a patient born to consanguineous parents and presented with a complex congenital nonprogressive cerebellar disorder accompanied by neurodevelopmental delay, intellectual disability, and prominent drug-responsive paroxysmal non-kinesigenic dyskinesia. Segregation analysis confirmed that the homozygous variant was inherited from heterozygous parents who developed mild gait ataxia and tremor in their 40s. CONCLUSIONS: Biallelic loss-of-function variants in FGF14 are a rare cause of inherited cerebellar ataxia and expand the current genetic spectrum of ATX-FGF14. © 2024 International Parkinson and Movement Disorder Society.","journal":"Movement Disorders","year":2024,"id":460616,"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":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9423,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1289243,"name":"Н. В. Смолина","orcid":null,"position":1,"is_corresponding":false},{"id":1288770,"name":"Şeyma Tekgül","orcid":"0000-0001-5223-5627","position":2,"is_corresponding":false},{"id":1288771,"name":"Tuğçe Gül","orcid":"0000-0002-1818-9839","position":3,"is_corresponding":false},{"id":1289244,"name":"Ahmet Yeşilyurt","orcid":null,"position":4,"is_corresponding":false},{"id":52692,"name":"Henry Houlden","orcid":"0000-0002-2866-7777","position":5,"is_corresponding":false},{"id":288179,"name":"Stephan Züchner","orcid":"0000-0001-5669-7415","position":6,"is_corresponding":false},{"id":841745,"name":"Bernard Brais","orcid":"0000-0003-1394-3561","position":7,"is_corresponding":false},{"id":841726,"name":"David Pellerin","orcid":"0000-0002-5807-995X","position":8,"is_corresponding":false},{"id":301277,"name":"A. Nazlı Başak","orcid":"0000-0001-6977-2517","position":9,"is_corresponding":false},{"id":730866,"name":"Dilşad Türkdoğan","orcid":null,"position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T02:04:07.925246Z","pmid":"39704271","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":[]}