{"doi":"10.1002/mdc3.14051","title":"Hyperkinetic Movement Disorder Caused by the Recurrent c. <scp>892C</scp> &gt;T <scp> <i>NACC1</i> </scp> Variant","abstract":"BACKGROUND: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency. OBJECTIVES: The objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level. METHODS: The movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient-derived fibroblasts. RESULTS: All patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient. CONCLUSIONS: The movement disorder is a prominent feature of NACC1-related disease.","journal":"Movement Disorders Clinical Practice","year":2024,"id":475141,"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":0.9471,"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":1311975,"name":"Salla M. Kangas","orcid":"0000-0002-3644-5832","position":1,"is_corresponding":false},{"id":53295,"name":"Estrella López‐Martín","orcid":"0000-0003-3212-1424","position":2,"is_corresponding":false},{"id":465609,"name":"Timothy Feyma","orcid":"0000-0003-0736-8185","position":3,"is_corresponding":false},{"id":301127,"name":"Fernando Scaglia","orcid":"0000-0003-3502-8460","position":4,"is_corresponding":false},{"id":1034258,"name":"Beatriz Martínez–Delgado","orcid":"0000-0001-6834-350X","position":5,"is_corresponding":false},{"id":79264,"name":"Outi Kuismin","orcid":"0000-0002-0157-8985","position":6,"is_corresponding":false},{"id":1311976,"name":"Maria Suo‐Palosaari","orcid":"0000-0002-5500-7168","position":7,"is_corresponding":false},{"id":921811,"name":"Lucinda Carr","orcid":"0000-0001-9238-108X","position":8,"is_corresponding":false},{"id":37920,"name":"Reetta Hinttala","orcid":"0000-0002-7642-4008","position":9,"is_corresponding":false},{"id":397614,"name":"Manju A. Kurian","orcid":"0000-0003-3529-5075","position":10,"is_corresponding":false},{"id":1311977,"name":"Johanna Uusimaa","orcid":"0000-0002-6794-209X","position":11,"is_corresponding":false},{"id":1311974,"name":"Jonna Komulainen‐Ebrahim","orcid":"0000-0002-3876-9830","position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":null,"created_at":"2026-07-19T02:06:16.992586Z","pmid":"38698576","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":[]}