Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.
作者信息
Nardecchia Francesca, Martinelli Simone, Pollini Luca, Leuzzi Vincenzo
机构信息
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
出版信息
Mov Disord Clin Pract. 2024 Jun;11(6):751-752. doi: 10.1002/mdc3.14039. Epub 2024 Apr 14.
Abstract
摘要
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本文引用的文献
1
Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.一名携带新型致病性CLTC变异体的患者出现部分左旋多巴反应性帕金森综合征
Mov Disord Clin Pract. 2024 Jun;11(6):749-750. doi: 10.1002/mdc3.14037. Epub 2024 Apr 8.
2
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient.司来吉兰治疗CLTC缺陷患者时运动障碍和神经发育的改善情况
Mov Disord Clin Pract. 2023 Jul 19;10(9):1430-1432. doi: 10.1002/mdc3.13834. eCollection 2023 Sep.
3
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in .CLTC基因中反复出现的致病性Pro890Leu替代导致了突触传递的普遍缺陷。
Front Mol Neurosci. 2023 May 31;16:1170061. doi: 10.3389/fnmol.2023.1170061. eCollection 2023.
4
Periventricular heterotopias: Broadening of the clinical spectrum of the clathrin 1 gene (CLTC) pathogenic variants.脑室周围异位：网格蛋白1基因（CLTC）致病变异临床谱的扩展
Neurologia (Engl Ed). 2021 May;36(4):327-329. doi: 10.1016/j.nrl.2020.06.008. Epub 2020 Oct 9.
5
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.新生 CLTC 变异与从轻度到重度智力残疾、小头畸形、胼胝体发育不全和癫痫等可变表型相关。
Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.
6
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.伴有网格蛋白（CLTC）变异的患者存在神经递质转运缺陷，表现为智力障碍和早发性帕金森病。
Parkinsonism Relat Disord. 2019 Apr;61:207-210. doi: 10.1016/j.parkreldis.2018.10.012. Epub 2018 Oct 11.
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