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Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

作者信息

de Bot Susanne, Kamsteeg Erik-Jan, Van De Warrenburg Bart P C

机构信息

Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Brain. 2017 Dec 1;140(12):e73. doi: 10.1093/brain/awx280.

DOI:10.1093/brain/awx280
PMID:29112699
Abstract
摘要

相似文献

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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.
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Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?回复：由ATP13A2突变引起的复杂遗传性痉挛性截瘫：名称意味着什么？
Brain. 2017 Dec 1;140(12):e74. doi: 10.1093/brain/awx282.
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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.
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A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.一种导致复杂性遗传性痉挛性截瘫的新型ATP13A2变体。
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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.两名智利兄弟姐妹中ATP13A2突变的中间表型：帕金森症与遗传性痉挛性截瘫之间的连续性研究
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A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.
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PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.PLA2G6 相关性神经退行性疾病表现为一种复杂形式的遗传性痉挛性截瘫。
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Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.帕金森病相关基因PARK9位点的遗传变异导致13A2型ATP酶功能受损。
Curr Protein Pept Sci. 2017;18(7):725-732. doi: 10.2174/1389203717666160311121534.

引用本文的文献

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
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.遗传性痉挛性截瘫的基因诊断中的挑战和争议。
Curr Neurol Neurosci Rep. 2021 Feb 28;21(4):15. doi: 10.1007/s11910-021-01099-x.
3
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.
4
Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?回复：由ATP13A2突变引起的复杂遗传性痉挛性截瘫：名称意味着什么？
Brain. 2017 Dec 1;140(12):e74. doi: 10.1093/brain/awx282.