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DYT30 due to Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

作者信息

Shashi Sridhar, Nashi Saraswati, Arunachal Gautham, Venkatachalam N, Padmanabha Hansashree, Mailankody Pooja, Menon Deepak, Arshad Faheem, Alladi Suvarna, Mathuranath Pavagada, Mahale Rohan R

机构信息

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2023 May-Jun;26(3):286-288. doi: 10.4103/aian.aian_59_23. Epub 2023 Apr 20.

DOI:10.4103/aian.aian_59_23
PMID:37538408
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10394456/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5787/10394456/8b4c6f600e7e/AIAN-26-286-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5787/10394456/497a0c4ae05e/AIAN-26-286-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5787/10394456/8b4c6f600e7e/AIAN-26-286-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5787/10394456/497a0c4ae05e/AIAN-26-286-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5787/10394456/8b4c6f600e7e/AIAN-26-286-g002.jpg

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本文引用的文献

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Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.苍白球深部脑刺激对一名VPS16相关肌张力障碍患者的长期益处。
Neurol Res Pract. 2022 May 30;4(1):21. doi: 10.1186/s42466-022-00185-w.
2
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.纯合错义 VPS16 变异与一种新的疾病相关，该疾病类似于两名兄弟姐妹的黏多糖贮积症-plus 综合征。
Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4.
3
Mutation screening of VPS16 gene in patients with isolated dystonia.
Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.
孤立性肌张力障碍患者VPS16基因的突变筛查
Parkinsonism Relat Disord. 2021 Feb;83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.
4
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.HOPS 复合物基因 VPS16 和 VPS41 的功能丧失变异导致伴有溶酶体异常的早发性肌张力障碍。
Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.
5
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.VPS16基因的纯合突变导致常染色体隐性青少年期原发性肌张力障碍。
Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.