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Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.

作者信息

Di Luca Daniel G, Wubuli Dilinuer, McNiven Vanda, Lang Anthony E

机构信息

Edmond J. Safra Program in Parkinson's Disease, Movement Disorders Clinic, Krembil Brain Institute Toronto Western Hospital Toronto Ontario Canada.

Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health University of Toronto Toronto Ontario Canada.

出版信息

Mov Disord Clin Pract. 2023 Mar 1;10(4):710-712. doi: 10.1002/mdc3.13682. eCollection 2023 Apr.

DOI:10.1002/mdc3.13682
PMID:37070050
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10105087/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64c3/10105087/6a281708f1e5/MDC3-10-710-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64c3/10105087/6a281708f1e5/MDC3-10-710-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64c3/10105087/6a281708f1e5/MDC3-10-710-g001.jpg

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Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.孤立性肌张力障碍作为GDAP2相关疾病的首发表现
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引用本文的文献

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Neurol Genet. 2025 May 28;11(3):e200268. doi: 10.1212/NXG.0000000000200268. eCollection 2025 Jun.

本文引用的文献

1
GDAP2 Overexpression Affects the Development of Neurons and Dysregulates Neuronal Excitatory Synaptic Transmission.GDAP2 过表达影响神经元发育并扰乱神经元兴奋性突触传递。
Neuroscience. 2022 Apr 15;488:32-43. doi: 10.1016/j.neuroscience.2022.02.005. Epub 2022 Feb 12.
2
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.新型GDAP2致病变异在中国一个家系中导致常染色体隐性遗传性脊髓小脑共济失调27型（SCAR27）。
Brain. 2020 Jun 1;143(6):e50. doi: 10.1093/brain/awaa121.
3
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
一名成年发病的小脑共济失调患者中存在纯合的GDAP2功能丧失变异。
Brain. 2020 Jun 1;143(6):e49. doi: 10.1093/brain/awaa120.
4
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.回复：一名成年期发病的小脑共济失调患者中存在纯合的GDAP2功能丧失变异；并且新型GDAP2致病变异在中国一个家系中导致常染色体隐性遗传性脊髓小脑共济失调27型（SCAR27）。
Brain. 2020 Jun 1;143(6):e51. doi: 10.1093/brain/awaa122.
5
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.GDAP2 突变使一种新型小脑共济失调易患细胞应激。
Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.