Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-023-01619-0.pdf
Reference15 articles.
1. Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5:24.
2. 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.
3. 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.
4. 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.
5. 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.
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