Ataxia and Action Myoclonus Related to Novel Mutations in Gene.
作者信息
Manrique Leire, Sánchez-Rodríguez Antonio, Pelayo-Negro Ana L, Corral-Juan Marc, Matilla-Dueñas Antoni, Infante Jon
机构信息
Service of Neurology University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades, Neurodegenerativas (CIBERNED)" Santander Spain.
Neurogenetics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neuroscience, Germans Trias i Pujol Research Institute (IGTP) Universitat Autònoma de Barcelona-Can Ruti Campus Barcelona Spain.
出版信息
Mov Disord Clin Pract. 2021 Jun 14;8(6):969-971. doi: 10.1002/mdc3.13260. eCollection 2021 Aug.
Abstract
摘要
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本文引用的文献
1
Psychiatric Manifestations of Mutations.
Mov Disord Clin Pract. 2020 Sep 4;7(7):838-841. doi: 10.1002/mdc3.13034. eCollection 2020 Oct.
2
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.
Parkinsonism Relat Disord. 2020 Jul;76:42-43. doi: 10.1016/j.parkreldis.2020.06.001. Epub 2020 Jun 7.
3
Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.
Folia Neuropathol. 2019;57(3):285-294. doi: 10.5114/fn.2019.88459.
4
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.
Mov Disord Clin Pract. 2017 Dec 28;5(2):195-199. doi: 10.1002/mdc3.12570. eCollection 2018 Mar-Apr.
5
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
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The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
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Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.
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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
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