Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Hereditary ataxias and paraparesias: clinical and genetic update. Curr Opin Neurol. 2018;31(4):462–71. https://doi.org/10.1097/WCO.0000000000000585.

Article  PubMed  Google Scholar 

Novis LE, Spitz M, Jardim M, Raskin S, Teive HAG. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arq Neuropsiquiatr. 2020;78(9):576–85. https://doi.org/10.1590/0004-282X20200017.

Article  PubMed  Google Scholar 

Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885–94. https://doi.org/10.1016/S1474-4422(10)70183-6.

Article  CAS  PubMed  Google Scholar 

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. The inherited cerebellar ataxias: an update. J Neurol. 2023;270(1):208–22. https://doi.org/10.1007/s00415-022-11383-6.

Article  PubMed  Google Scholar 

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR, FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat. 2014;35(1):45–9. https://doi.org/10.1002/humu.22451.

Article  PubMed  Google Scholar 

Krygier M, Kwarciany M, Wasilewska K, Pienkowski VM, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzanicz M. A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. Clin Genet. 2019;95(3):415–9. https://doi.org/10.1111/cge.13489.

Article  CAS  PubMed  Google Scholar 

Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat. 2013;34(10):1313–21. https://doi.org/10.1002/humu.22368.

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. 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. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30.

Article  PubMed  PubMed Central  Google Scholar 

Kim M, Kim AR, Kim JS, et al. Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism Relat Disord. 2020;80:58–64. https://doi.org/10.1016/j.parkreldis.2020.08.040.

Article  PubMed  Google Scholar 

Montaut S, Tranchant C, Drouot N, et al. Assessment of a targeted gene panel for identification of genes associated with movement disorders. JAMA Neurol. 2018;75(10):1234–45. https://doi.org/10.1001/jamaneurol.2018.1478.

Article  PubMed  PubMed Central  Google Scholar 

Galatolo D, Tessa A, Filla A, Santorelli FM. Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics. 2018;19(1):1–8. https://doi.org/10.1007/s10048-017-0532-6.

Article  CAS  PubMed  Google Scholar 

Sterne JAC, Hernán MA, Reeves BC, Savović J, Berkman ND, Viswanathan M, et al. ROBINS-I: a tool for assessing risk of bias in non-randomized studies of interventions. BMJ. 2016;355:i4919. https://doi.org/10.1136/bmj.i4919.

Article  PubMed  PubMed Central  Google Scholar 

Maksemous N, Roy B, Smith RA, Griffiths LR. Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. Mol Genet Genomic Med. 2016;4(2):211–22. https://doi.org/10.1002/mgg3.196.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maksemous N, Sutherland HG, Smith RA, Haupt LM, Griffiths LR. Comprehensive exonic sequencing of known ataxia genes in episodic ataxia. Biomedicines. 2020;8(5):134. https://doi.org/10.3390/biomedicines8050134.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, et al. Spastic Paraplegia and Ataxia Network. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol. 2018;75(5):591–9. https://doi.org/10.1001/jamaneurol.2017.5121.

Article  PubMed  PubMed Central  Google Scholar 

Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R. Molecular characterization of Portuguese patients with hereditary cerebellar ataxia. Cells. 2022;11(6):981. https://doi.org/10.3390/cells11060981.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Radziwonik W, Elert-Dobkowska E, Klimkowicz-Mrowiec A, Ziora-Jakutowicz K, Stepniak I, Zaremba J, Sulek A. Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias. J Appl Genet. 2022;63(3):513–25. https://doi.org/10.1007/s13353-022-00701-3.

Article  CAS  PubMed  Google Scholar 

Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain. 2013;136(Pt 10):3106–18. https://doi.org/10.1093/brain/awt236.

Article  PubMed  PubMed Central  Google Scholar 

Wan N, Chen Z, Wan L, Yuan H, Tang Z, Liu M, Peng Y, Peng L, Lei L, Xie Y, Deng Q, Wang S, Wang C, Peng H, Hou X, Shi Y, Long Z, Qiu R, Xia K, et al. Genetic etiology of a Chinese ataxia cohort: expanding the mutational spectrum of hereditary ataxias. Parkinsonism Relat Disord. 2021;89:120–7. https://doi.org/10.1016/j.parkreldis.2021.07.010.

Article  CAS  PubMed  Google Scholar 

Hadjivassiliou M, Martindale J, Shanmugarajah P, et al. Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. J Neurol Neurosurg Psychiatry. 2017;88:301–9.

Article  CAS  PubMed  Google Scholar 

Kang C, Liang C, Ahmad KE, et al. High degree of genetic heterogeneity for hereditary cerebellar ataxias in Australia. Cerebellum. 2019;18:137–46. https://doi.org/10.1007/s12311-018-0969-7.

Article  CAS  PubMed  Google Scholar 

da Graça FF, Peluzzo TM, Bonadia LC, Martinez ARM, Diniz de Lima F, Pedroso JL, Barsottini OGP, Gama MTD, Akçimen F, Dion PA, Rouleau GA, Marques W Jr, França MC Jr. Diagnostic yield of whole exome sequencing for adults with ataxia: a Brazilian perspective. Cerebellum. 2022;21(1):49–54. https://doi.org/10.1007/s12311-021-01268-1.

Article  CAS  PubMed  Google Scholar 

Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Transl Neurodegener. 2021;10(1):40. https://doi.org/10.1186/s40035-021-00264-z.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019;21(1):195–206. https://doi.org/10.1038/s41436-018-0007-7.

Article  CAS  PubMed  Google Scholar 

Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, Boycott KM, Yoon G. Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy. Mov Disord Clin Pract. 2020;7(8):940–9. https://doi.org/10.1002/mdc3.13086.

Article  PubMed  PubMed Central  Google Scholar 

Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time. J Hum Genet. 2020;65(10):895–902. https://doi.org/10.1038/s10038-020-0785-z.

Article  CAS  PubMed  Google Scholar 

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, et al. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet Med. 2019;21(3):553–63. https://doi.org/10.1038/s41436-018-0089-2.

Article  CAS  PubMed  Google Scholar 

da Costa SCG, Rezende Filho FM, de Freitas JL, de Assis Pereira Matos PCA, Della-Ripa B, França MC Jr, Junior MW, Santos M, IVB C, Vale TC, Kok F, Alonso I, Pedroso JL, OGP B. Clinical and genetic characterization of Brazilian patients with ataxia and oculomotor apraxia. Mov Disord. 2022;37(6):1309–16. https://doi.org/10.1002/mds.29015.

Article  CAS  PubMed  Google Scholar 

Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH. Genetic variants associated with episodic ataxia in Korea. Sci Rep. 2017;7(1):13855. https://doi.org/10.1038/s41598-017-14254-7.

Article  CAS  PubMed  PubMed Central