Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5:24.

Article  PubMed  Google Scholar 

Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, et al. Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes. J Neurol. 1999;246:389–93.

Article  CAS  PubMed  Google Scholar 

Li M, Liu F, Hao X, Fan Y, Li J, Hu Z, et al. Rare kcnd3 loss-of-function mutation associated with the SCA19/22. Front Mol Neurosci. 2022;15:919199.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zanni G, Hsiao C-T, Fu S-J, Tang C-Y, Capuano A, Bosco L, et al. Novel KCND3 variant underlying nonprogressive congenital ataxia or SCA19/22 disrupt KV4.3 protein expression and K+ currents with variable effects on channel properties. IJMS. 2021;22:4986.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pollini L, Galosi S, Tolve M, Caputi C, Carducci C, Angeloni A, et al. KCND3-related neurological disorders: from old to emerging clinical phenotypes. Int J Mol Sci. 2020;21:E5802.

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Skanjeti A, Angusti T, Iudicello M, Dazzara F, Delgado Yabar GM, Trevisiol E, et al. Assessing the accuracy and reproducibility of computer-assisted analysis of (123) I-FP-CIT SPECT using BasGan (V2). J Neuroimaging. 2014;24:257–65.

Article  CAS  PubMed  Google Scholar 

Nobili F, Naseri M, De Carli F, Asenbaum S, Booij J, Darcourt J, et al. Automatic semi-quantification of [123I]FP-CIT SPECT scans in healthy volunteers using BasGan version 2: results from the ENC-DAT database. Eur J Nucl Med Mol Imaging. 2013;40:565–73.

Article  PubMed  Google Scholar 

Huin V, Strubi-Vuillaume I, Dujardin K, Brion M, Delliaux M, Dellacherie D, et al. Expanding the phenotype of SCA19/22: parkinsonism, cognitive impairment and epilepsy. Park Relat Disord. 2017;45:85–9.

Article  Google Scholar 

Lee Y-C, Durr A, Majczenko K, Huang Y-H, Liu Y-C, Lien C-C, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72:859–69.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paucar M, Bergendal Å, Gustavsson P, Nordenskjöld M, Laffita-Mesa J, Savitcheva I, et al. Novel features and abnormal pattern of cerebral glucose metabolism in spinocerebellar ataxia 19. Cerebellum. 2018;17:465–76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Seidel K, Küsters B, den Dunnen WFA, Bouzrou M, Hageman G, Korf H-W, et al. First patho-anatomical investigation of the brain of a SCA19 patient. Neuropathol Appl Neurobiol. 2014;40:640–4.

Article  PubMed  Google Scholar 

Yen TC, Lu CS, Tzen KY, Wey SP, Chou YH, Weng YH, et al. Decreased dopamine transporter binding in Machado-Joseph disease. J Nucl Med. 2000;41:994–8.

CAS  PubMed  Google Scholar 

Miranda J, Cubo E. Spinocerebellar ataxia type 3: response to levodopa infusion in two cases. Neurol Sci. 2022;43:3423–5.

Article  PubMed  Google Scholar 

Wu T, Hallett M. The cerebellum in Parkinson’s disease. Brain. 2013;136:696–709.

Article  PubMed  PubMed Central  Google Scholar