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Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome).

作者信息

Yu Jeryl Ritzi T, Walker Ruth H, Danek Adrian, Westhoff Connie M, Vege Sunitha, Itin Ilia

机构信息

Institute for Neurosciences, St. Luke's Medical Center, Quezon City and Global City, Philippines.

University of the East, Ramon Magsaysay Memorial Medical Center, Quezon City, Philippines.

出版信息

J Mov Disord. 2024 Apr;17(2):226-229. doi: 10.14802/jmd.23196. Epub 2024 Jan 8.

DOI:10.14802/jmd.23196
PMID:38185097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11082608/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c9c/11082608/eacb2e54c072/jmd-23196f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c9c/11082608/eacb2e54c072/jmd-23196f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c9c/11082608/eacb2e54c072/jmd-23196f1.jpg

相似文献

1
Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome).一名携带XK基因变异但无XK病（麦克劳德综合征）男性的基底神经节综合征
J Mov Disord. 2024 Apr;17(2):226-229. doi: 10.14802/jmd.23196. Epub 2024 Jan 8.
2
A case of McLeod syndrome caused by a nonsense variation c.942G>A in the gene: A case report.一例由该基因无义变异c.942G>A导致的麦克劳德综合征病例报告。
Front Genet. 2023 Feb 1;14:1073139. doi: 10.3389/fgene.2023.1073139. eCollection 2023.
3
McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.与XK错义突变相关的麦克劳德表型，无血液学、神经肌肉或脑部受累。
Transfusion. 2003 Jul;43(7):928-38. doi: 10.1046/j.1537-2995.2003.t01-1-00434.x.
4
Case report: Clinical, genetic and immunological characterization of a novel variant in a patient with McLeod syndrome.病例报告：一名患有麦克劳德综合征患者的新型变异体的临床、遗传和免疫学特征
Front Genet. 2024 Aug 21;15:1421952. doi: 10.3389/fgene.2024.1421952. eCollection 2024.
5
XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.与XK相关的麦克劳德综合征：非血液学表现及其与VPS13A疾病的关系
Transfus Med Hemother. 2022 Jan 25;49(1):4-12. doi: 10.1159/000521417. eCollection 2022 Feb.
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Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.一名麦克劳德综合征患者中新型XK剪接位点突变的鉴定与特征分析。
Transfusion. 2009 Mar;49(3):479-84. doi: 10.1111/j.1537-2995.2008.02003.x. Epub 2008 Nov 25.
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A novel XK gene mutation in a Taiwanese family with McLeod syndrome.一个患有麦克劳德综合征的台湾家庭中的一种新型XK基因突变。
J Neurol Sci. 2014 May 15;340(1-2):221-4. doi: 10.1016/j.jns.2014.02.027. Epub 2014 Feb 27.
8
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.对与麦克劳德表型相关的XK基因座周围广泛缺失的见解及两例新病例的特征分析
Gene. 2007 May 1;392(1-2):142-50. doi: 10.1016/j.gene.2006.11.023. Epub 2007 Jan 11.
9
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.McLeod 综合征与其他神经棘红细胞增多症综合征的分子基础和临床概述：综述。
JAMA Neurol. 2018 Dec 1;75(12):1554-1562. doi: 10.1001/jamaneurol.2018.2166.
10
Kell and XK immunohistochemistry in McLeod myopathy.麦克劳德肌病中的凯尔抗原和XK抗原免疫组化
Muscle Nerve. 2001 Oct;24(10):1346-51. doi: 10.1002/mus.1154.

本文引用的文献

1
A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.质膜上的脂质翻转酶 XK 与脂质转位蛋白 VPS13A 之间的伙伴关系。
Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2205425119. doi: 10.1073/pnas.2205425119. Epub 2022 Aug 22.
2
Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.VPS13A 与 XK 翻转酶之间的相互作用对于 VPS13A 在人类中的功能很重要。
J Cell Sci. 2022 Sep 1;135(17). doi: 10.1242/jcs.260227. Epub 2022 Sep 8.
3
Three new XK alleles; two associated with a McLeod RBC phenotype.
三个新的XK等位基因；两个与麦克劳德红细胞表型相关。
Transfusion. 2021 Oct;61(10):E69-E70. doi: 10.1111/trf.16650. Epub 2021 Sep 6.
4
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.McLeod 综合征与其他神经棘红细胞增多症综合征的分子基础和临床概述：综述。
JAMA Neurol. 2018 Dec 1;75(12):1554-1562. doi: 10.1001/jamaneurol.2018.2166.
5
The McLeod syndrome without acanthocytes.无棘红细胞的麦克劳德综合征
Parkinsonism Relat Disord. 2008;14(4):364-6. doi: 10.1016/j.parkreldis.2007.07.011. Epub 2007 Sep 17.
6
McLeod phenotype without the McLeod syndrome.无麦克劳德综合征的麦克劳德表型
Transfusion. 2007 Feb;47(2):299-305. doi: 10.1111/j.1537-2995.2007.01106.x.