Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the Gene.
作者信息
Algahtani Hussein, Shirah Bader, Alshammari Salem, Alghamdi Fareeda, Abdulkareem Angham Abdulrhman, Naseer Muhammad Imran
机构信息
Neurology Section, Department of Medicine King Abdulaziz Medical City Jeddah Saudi Arabia.
Research Office King Abdullah International Medical Research Center Jeddah Saudi Arabia.
出版信息
Mov Disord Clin Pract. 2022 Jul 12;9(7):997-1002. doi: 10.1002/mdc3.13508. eCollection 2022 Oct.
Abstract
摘要
相似文献
1
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the Gene.与该基因纯合变异相关的常染色体隐性遗传性痉挛性截瘫78型
Mov Disord Clin Pract. 2022 Jul 12;9(7):997-1002. doi: 10.1002/mdc3.13508. eCollection 2022 Oct.
2
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).ATP13A2/PARK9基因的功能丧失突变会导致复杂型遗传性痉挛性截瘫（SPG78）。
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
3
A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia.一种新型 ATP13A2 基因突变导致纯遗传性痉挛性截瘫。
Parkinsonism Relat Disord. 2021 May;86:58-60. doi: 10.1016/j.parkreldis.2021.03.020. Epub 2021 Mar 30.
4
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.复杂遗传性痉挛性截瘫的遗传学和表型特征
Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23.
5
Identification of a novel mutation in associated with a complicated form of hereditary spastic paraplegia.与一种复杂形式的遗传性痉挛性截瘫相关的新型突变的鉴定。
Neurol Genet. 2020 Sep 8;6(5):e514. doi: 10.1212/NXG.0000000000000514. eCollection 2020 Oct.
6
Adult-Onset Hereditary Spastic Paraplegia 15 in a Saudi Patient with A Compound Heterozygous Variant in the Gene.一名沙特患者因该基因的复合杂合变异导致成人起病的遗传性痉挛性截瘫15型
Maedica (Bucur). 2022 Sep;17(3):730-734. doi: 10.26574/maedica.2022.17.3.730.
7
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.由 SPG11 基因突变引起的常染色体隐性遗传性痉挛性截瘫的中国家庭。
BMC Neurol. 2020 Jan 3;20(1):2. doi: 10.1186/s12883-019-1593-y.
8
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.一名捷克患者因FA2H基因的新型变异导致的常染色体隐性遗传性痉挛性截瘫SPG35型
J Clin Neurosci. 2019 Jan;59:337-339. doi: 10.1016/j.jocn.2018.10.094. Epub 2018 Nov 13.
9
Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.常染色体隐性遗传性痉挛性截瘫伴或不伴癫痫发作的精神运动发育迟缓：沙特阿拉伯的一例病例报告
Cureus. 2024 May 20;16(5):e60642. doi: 10.7759/cureus.60642. eCollection 2024 May.
10
Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in gene in a large consanguineous Saudi family.沙特一个大家族中因一个基因的罕见突变导致的伴有痉挛的常染色体隐性小脑共济失调。
Genes Dis. 2019 Jul 27;8(1):110-114. doi: 10.1016/j.gendis.2019.07.009. eCollection 2021 Jan.
引用本文的文献
1
Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates.在一项针对非人类灵长类动物的初步研究中，黑质ATP13A2缺失会引发帕金森病相关的神经退行性变。
NPJ Parkinsons Dis. 2024 Aug 1;10(1):141. doi: 10.1038/s41531-024-00757-4.
本文引用的文献
1
Hereditary Spastic Paraplegia: An Update.遗传性痉挛性截瘫：最新进展
Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697.
2
Identification of a novel mutation in associated with a complicated form of hereditary spastic paraplegia.与一种复杂形式的遗传性痉挛性截瘫相关的新型突变的鉴定。
Neurol Genet. 2020 Sep 8;6(5):e514. doi: 10.1212/NXG.0000000000000514. eCollection 2020 Oct.
3
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.ATP13A2 相关遗传性痉挛性截瘫的临床与遗传学分析扩展了表型谱。
Mol Genet Genomic Med. 2020 Mar;8(3):e1052. doi: 10.1002/mgg3.1052. Epub 2020 Jan 15.
4
From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.从PARK9到SPG78：ATP13A2突变的临床谱
Parkinsonism Relat Disord. 2019 Aug;65:272-273. doi: 10.1016/j.parkreldis.2019.05.025. Epub 2019 May 23.
5
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
Brain. 2017 Dec 1;140(12):e73. doi: 10.1093/brain/awx280.
6
ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.ATP13A2/PARK9通过一种新的磷脂酰肌醇(3,5)二磷酸介导的支架功能调节内吞/溶酶体货物分选和蛋白质稳态。
Hum Mol Genet. 2017 May 1;26(9):1656-1669. doi: 10.1093/hmg/ddx070.
7
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).ATP13A2/PARK9基因的功能丧失突变会导致复杂型遗传性痉挛性截瘫（SPG78）。
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
8
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.复杂遗传性痉挛性截瘫的遗传学和表型特征
Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23.
9
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.针对小脑共济失调和痉挛性截瘫的临床外显子组测序揭示了新的基因-疾病关联和意想不到的罕见疾病。
Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11.
Zotero 插件