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PI21\/00103"]}]},{"name":"the Spanish Foundation Per Amor a l\u2019Art (FPAA)","award":["20143130 and 20143131"],"award-info":[{"award-number":["20143130 and 20143131"]}]},{"name":"the Spanish Foundation Per Amor a l\u2019Art (FPAA)","award":["PROMETEO\/2018\/135"],"award-info":[{"award-number":["PROMETEO\/2018\/135"]}]},{"name":"the Spanish Foundation Per Amor a l\u2019Art (FPAA)","award":["FPU15\/00964"],"award-info":[{"award-number":["FPU15\/00964"]}]},{"name":"the Spanish Foundation Per Amor a l\u2019Art (FPAA)","award":["FI19\/00072"],"award-info":[{"award-number":["FI19\/00072"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Our clinical series comprises 124 patients with movement disorders (MDs) and\/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and\/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript\/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.<\/jats:p>","DOI":"10.3390\/ijms231911847","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T23:39:31Z","timestamp":1665272371000},"page":"11847","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias"],"prefix":"10.3390","volume":"23","author":[{"given":"Dolores","family":"Mart\u00ednez-Rubio","sequence":"first","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Hinarejos","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Sancho","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nerea","family":"Gorr\u00eda-Redondo","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Bernad\u00f3-Fonz","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Tello","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Marco-Mar\u00edn","sequence":"additional","affiliation":[{"name":"Structural Enzymopathology Unit, Instituto de Biomedicina de Valencia (IBV), Consejo Superior de Investigaciones Cient\u00edficas (CSIC), Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras (CIBERER-ISCIII), 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itxaso","family":"Mart\u00ed-Carrera","sequence":"additional","affiliation":[{"name":"Biodonostia Health Research Institute, Paediatric Group, Donostia University Hospital, Department of Paediatrics, University of the Basque Country UPV\/EHU, 20014 San Sebastian, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jes\u00fas","family":"Mart\u00ednez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Hospital Universitario Cruces, 48903 Barakaldo, Pa\u00eds Vasco, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainhoa","family":"Garc\u00eda-Ribes","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Hospital Universitario Cruces, 48903 Barakaldo, Pa\u00eds Vasco, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Baviera-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 Valencia, Spain"},{"name":"Health Research Institute, Hospital Universitari i Polit\u00e8cnic La Fe, 46026 Valencia, Spain"},{"name":"Movement Disorders Unit, Neurology Department, Hospital Universitari i Polit\u00e8cnic La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Sastre-Bataller","sequence":"additional","affiliation":[{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 Valencia, Spain"},{"name":"Movement Disorders Unit, Neurology Department, Hospital Universitari i Polit\u00e8cnic La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mart\u00ednez-Torres","sequence":"additional","affiliation":[{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 Valencia, Spain"},{"name":"Movement Disorders Unit, Neurology Department, Hospital Universitari i Polit\u00e8cnic La Fe, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Duat-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Janeiro","sequence":"additional","affiliation":[{"name":"Centro de Referencia de Doen\u00e7as Hereditarias do Metabolismo, CHULN, Hospital Santa Maria, 1649-035 Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Regional Universitario, 29010 Malaga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1608-841X","authenticated-orcid":false,"given":"Leticia","family":"P\u00edas-Peleteiro","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar O\u2019Callaghan","family":"Gordo","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngeles","family":"Ruiz-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Hospital Universitari Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban","family":"Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Unit of Parkinson and Movement Disorders, Department of 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Andr\u00e9s-Border\u00eda","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser Maria","family":"Pons","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Hospital Agia Sof\u00eda, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Jes\u00fas-Maestre","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology and Clinical Neurophysiology, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla, and Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED-ISCIII), 41013 Seville, 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of Veterinary and Experimental Sciences, Universidad Cat\u00f3lica de Valencia \u201cSan Vicente M\u00e1rtir\u201d, 46001 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Hinarejos, I., Machuca-Arellano, C., Sancho, P., and Espinos, C. (2020). Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA). Antioxidants, 9.","DOI":"10.3390\/antiox9101020"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1111\/cge.13057","article-title":"On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation","volume":"93","author":"Tello","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.3389\/fneur.2020.01024","article-title":"Brain MRI Pattern Recognition in Neurodegeneration with Brain Iron Accumulation","volume":"11","author":"Lee","year":"2020","journal-title":"Front. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng572","article-title":"A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome","volume":"28","author":"Zhou","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.parkreldis.2018.10.013","article-title":"PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression","volume":"61","author":"Darling","year":"2019","journal-title":"Park. Relat. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1001\/jamaneurol.2018.1478","article-title":"Assessment of a Targeted Gene Panel for Identification of Genes Associated with Movement Disorders","volume":"75","author":"Montaut","year":"2018","journal-title":"JAMA Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/s41436-018-0007-7","article-title":"Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes","volume":"21","author":"Sun","year":"2018","journal-title":"Genet. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1001\/jamaneurol.2017.5121","article-title":"Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes","volume":"75","author":"Coutelier","year":"2018","journal-title":"JAMA Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s10048-019-00565-6","article-title":"Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes","volume":"20","author":"Stepniak","year":"2019","journal-title":"Neurogenetics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"981","DOI":"10.3389\/fneur.2018.00981","article-title":"Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study","volume":"9","author":"Tessa","year":"2018","journal-title":"Front. 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