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A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.

作者信息

Garrì Federica, Ciprietti Dario, Lerjefors Lisa, Landi Andrea, Pilleri Manuela, Biundo Roberta, Salviati Leonardo, Carecchio Miryam, Antonini Angelo

机构信息

Parkinson and Movement Disorders Unit, Study Center on Neurodegeneration (CESNE), Department of Neuroscience, University of Padua, Padua, Italy.

Department of Neurosciences, University of Padova, Padua, Italy.

出版信息

Neurol Sci. 2023 Sep;44(9):3323-3326. doi: 10.1007/s10072-023-06832-7. Epub 2023 May 10.

DOI:10.1007/s10072-023-06832-7
PMID:37160802
Abstract
摘要

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本文引用的文献

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The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.复杂儿童起病的多动运动障碍的遗传全景。
Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25.
2
A very early onset of juvenile parkinsonism.青少年帕金森病的极早发。
J Neurol. 2022 Dec;269(12):6661-6663. doi: 10.1007/s00415-022-11278-6. Epub 2022 Jul 18.
3
Genetic mimics of cerebral palsy.脑性瘫痪的遗传模拟物。
Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26.
4
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.基因性帕金森病的深部脑刺激治疗：系统综述。
J Neurol. 2020 Apr;267(4):883-897. doi: 10.1007/s00415-019-09181-8. Epub 2019 Jan 18.
5
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.帕金森病基因 Parkin、PINK1、DJ1 的基因型-表型关系：MDSGene 系统评价。
Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11.
6
Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.小脑和锥体功能障碍、睑下垂及肌无力作为PARK-2的首发症状
Mov Disord. 2009 Jan 30;24(2):303-5. doi: 10.1002/mds.22342.