{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T07:53:08Z","timestamp":1789545188032,"version":"build-2803163510"},"reference-count":47,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T00:00:00Z","timestamp":1705622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscles"],"abstract":"<jats:p>An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left eye divergent strabismus, bilateral ophthalmoparesis, impaired smooth pursuit, severe spastic paraparesis of the lower limbs with global brisk tendon reflexes, bilateral extensor plantar responses, and bilateral ankle clonus reflex. Bilateral dysdiadochokinesia of the upper limbs, Stewart-Holmes rebound phenomenon, bilateral dysmetria, and a bilateral abnormal finger-to-nose test were observed. Markedly reduced bilateral visual acuity (right side 20\/150, left side 20\/400) and moderate to severe optic atrophy were detected. Neuroimaging studies showed cerebellar atrophy and bilateral optic nerves and optic tract atrophy as the main findings. As a complicated Hereditary Spastic Paraplegia, autosomal dominant Spinocerebellar Ataxia, or inherited neurometabolic disorders were suspected, a large next-generation sequencing-based gene panel testing disclosed the heterozygous pathogenic variant c.162-1G&gt;A in intron 1 of the PNPT1 gene. A diagnosis of PNPT1-related spastic ataxia was established. Clinicians must be aware of the possibility of PNPT1 pathogenic variants in cases of spastic ataxia and spastic paraplegias that are associated with optic atrophy and marked cognitive decline, regardless of the established family history of neurological compromise.<\/jats:p>","DOI":"10.3390\/muscles3010002","type":"journal-article","created":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T05:46:44Z","timestamp":1705643204000},"page":"4-15","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders"],"prefix":"10.3390","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7416-7108","authenticated-orcid":false,"given":"Paulo","family":"Sgobbi","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor Braga","family":"Farias","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2141-1218","authenticated-orcid":false,"given":"Paulo de Lima","family":"Serrano","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno de Mattos Lombardi","family":"Badia","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9lvia Bertoldo de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alana Strucker","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila Alves","family":"Pereira","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa de Freitas","family":"Moreira","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco Ant\u00f4nio Troccoli","family":"Chieia","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriel R\u00eago","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5250-8602","authenticated-orcid":false,"given":"Pedro Henrique Almeida","family":"Fraiman","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vin\u00edcius Lopes","family":"Braga","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta Ismael Lacerda","family":"Machado","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia Luiz","family":"Calegaretti","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabela Danziato","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta Correa","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco Antonio","family":"Orsini Neves","sequence":"additional","affiliation":[{"name":"Discipline of Clinical Semiology, Faculty of Medical Sciences of Nova Igua\u00e7u, Nova Igua\u00e7u 26260-045, RJ, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0150-525X","authenticated-orcid":false,"given":"Wladimir Bocca Vieira de Rezende","family":"Pinto","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Acary Souza Bulle","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/gim.2013.28","article-title":"Hereditary ataxias: Overview","volume":"15","author":"Jayadev","year":"2013","journal-title":"Genet. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1007\/s12311-019-01052-2","article-title":"The classification of Autosomal Recessive Cerebellar Ataxias: A Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force","volume":"18","author":"Beaudin","year":"2019","journal-title":"Cerebellum"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-019-0074-3","article-title":"Spinocerebellar ataxia","volume":"5","author":"Klockgether","year":"2019","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","article-title":"Hereditary Spastic Paraplegia: Clinical and genetic hallmarks","volume":"16","author":"Souza","year":"2017","journal-title":"Cerebellum"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"116620","DOI":"10.1016\/j.jns.2019.116620","article-title":"Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia","volume":"409","author":"Freitas","year":"2020","journal-title":"J. Neurol. Sci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.pediatrneurol.2022.02.007","article-title":"Childhood-onset Hereditary Spastic Paraplegia (HSP): A case series and review of literature","volume":"130","author":"Panwala","year":"2022","journal-title":"Pediatr. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1212\/WNL.0b013e31826d5fb0","article-title":"Reviewing the genetic causes of spastic-ataxias","volume":"79","author":"Bot","year":"2012","journal-title":"Neurology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1007\/s12311-021-01345-5","article-title":"A diagnostic approach to Spastic ataxia syndromes","volume":"21","author":"Pedroso","year":"2022","journal-title":"Cerebellum"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"582160","DOI":"10.3389\/fneur.2020.582160","article-title":"A proposed diagnostic algorithm for Inborn Errors of Metabolism presenting with movement disorders","volume":"11","year":"2020","journal-title":"Front. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Silver, G., and Mercimek-Andrews, S. (2020). Inherited metabolic disorders presenting with Ataxia. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21155519"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3390\/neurolint14020028","article-title":"Mitochondrial ataxias: Molecular classification and clinical heterogeneity","volume":"14","author":"Lopriore","year":"2022","journal-title":"Neurol. Int."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Kamini\u00f3w, K., Rygula, I., and Paprocka, J. (2023). Ataxia in Neurometabolic Disorders. Metabolites, 13.","DOI":"10.3390\/metabo13010047"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1590\/S0004-282X2010000200014","article-title":"Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)","volume":"68","author":"Dutra","year":"2010","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1590\/0004-282x20180098","article-title":"Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese","volume":"76","author":"Maggi","year":"2018","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1590\/0004-282x20160047","article-title":"Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS)","volume":"74","author":"Servelhere","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: Assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1002\/mds.28523","article-title":"Randomized trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia\u2013The SPASTOX trial","volume":"36","author":"Lima","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.ajhg.2012.09.001","article-title":"Mutation in PNPT1, which encodes a Polyribonucleotide Nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency","volume":"91","author":"Vedrenne","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.cell.2010.06.035","article-title":"PNPASE regulates RNA import into mitochondria","volume":"142","author":"Wang","year":"2010","journal-title":"Cell"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.cell.2018.04.017","article-title":"PNPT1 release from mitochondria during apoptosis triggers decay of Poly(A) RNAs","volume":"174","author":"Liu","year":"2018","journal-title":"Cell"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1002\/ajmg.a.40516","article-title":"Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders","volume":"176","author":"Eaton","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"8475","DOI":"10.1128\/MCB.01002-06","article-title":"Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis","volume":"26","author":"Chen","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ana.26366","article-title":"Heterozygous PNPT1 variants cause Spinocerebellar ataxia type 25","volume":"92","author":"Barbier","year":"2022","journal-title":"Ann. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1136\/jmedgenet-2020-107367","article-title":"Heterogeneity of PNPT1 neuroimaging: Mitochondriopathy, interferonopathy or both?","volume":"59","author":"Pennisi","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1038\/s41423-022-00962-2","article-title":"Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic reprogramming in macrophages","volume":"20","author":"Hsu","year":"2023","journal-title":"Cell. Mol. Immunol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.ajhg.2012.09.002","article-title":"A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss","volume":"91","author":"Wang","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","article-title":"Spinocerebellar ataxia: An update","volume":"266","author":"Sullivan","year":"2019","journal-title":"J. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/s41586-018-0363-0","article-title":"Mitochondrial double-stranded RNA triggers antiviral signalling in humans","volume":"560","author":"Dhir","year":"2018","journal-title":"Nature"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/ana.10798","article-title":"Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p","volume":"55","author":"Stevanin","year":"2004","journal-title":"Ann. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1080\/14734220510007932","article-title":"Spinocerebellar ataxia with sensory neuropathy (SCA25)","volume":"4","author":"Stevanin","year":"2005","journal-title":"Cerebellum"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.neurol.2016.07.003","article-title":"Movement disorders in mitochondrial diseases","volume":"172","author":"Tranchant","year":"2016","journal-title":"Rev. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ejhg.2016.128","article-title":"Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease","volume":"25","author":"Alodaib","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.jare.2021.01.005","article-title":"Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population","volume":"31","author":"Souissi","year":"2021","journal-title":"J. Adv. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/ahg.12442","article-title":"PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India","volume":"86","author":"Vanniya","year":"2022","journal-title":"Ann. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/cge.13068","article-title":"Novel biallelic mutation in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination","volume":"93","author":"Sato","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"3352","DOI":"10.1093\/hmg\/ddx221","article-title":"Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome","volume":"26","author":"Matilainen","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Rius, R., Van Bergen, N.J., Compton, A.G., Riley, L.G., Kava, M.P., Balasubramaniam, S., Amor, D.J., Fanjul-Fernandez, M., Cowley, M.J., and Fahey, M.C. (2019). Clinical spectrum and functional consequences associated with bi-allelic pathogenic PNPT1 variants. J. Clin. Med., 8.","DOI":"10.3390\/jcm8112020"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.braindev.2020.10.005","article-title":"PNPT1 mutations may cause Aicardi-Gouti\u00e8res-syndrome","volume":"43","author":"Bamborschke","year":"2021","journal-title":"Brain Dev."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/humu.20682","article-title":"A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia","volume":"29","author":"Arnoldi","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/mdc3.13437","article-title":"Spastic paraplegia type 7 and movement disorders: Beyond the Spastic Paraplegia","volume":"9","author":"Lang","year":"2022","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"101400","DOI":"10.1016\/j.ajoc.2022.101400","article-title":"A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy","volume":"26","author":"Eriksen","year":"2022","journal-title":"Am. J. Ophthalmol. Case Rep."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.neurol.2017.06.020","article-title":"Motor neuron disease in inherited neurometabolic disorders","volume":"174","author":"Souza","year":"2018","journal-title":"Rev. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/ana.20478","article-title":"Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13","volume":"57","author":"Kok","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_45","first-page":"6877","article-title":"Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome","volume":"24","author":"Melo","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1590\/0004-282X20140192","article-title":"Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: Comparison and correlation with other spinocerebellar ataxias","volume":"73","author":"Albuquerque","year":"2015","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.1111\/ene.14405","article-title":"Deciphering the natural history of SCA7 in children","volume":"27","author":"Bah","year":"2020","journal-title":"Eur. J. Neurol."}],"container-title":["Muscles"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2813-0413\/3\/1\/2\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T13:45:53Z","timestamp":1760103953000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2813-0413\/3\/1\/2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,19]]},"references-count":47,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["muscles3010002"],"URL":"https:\/\/doi.org\/10.3390\/muscles3010002","relation":{},"ISSN":["2813-0413"],"issn-type":[{"value":"2813-0413","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,19]]}}}