Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.
作者信息
Balint Bettina, Bhatia Kailash P
机构信息
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.
Department of Neurology University Hospital Heidelberg Heidelberg Germany.
出版信息
Mov Disord Clin Pract. 2015 Jan 14;2(1):93-98. doi: 10.1002/mdc3.12111. eCollection 2015 Mar.
Abstract
摘要
相似文献
1
Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.帕金森综合征及与切-东综合征相关的其他运动障碍：病例报告及系统文献综述
Mov Disord Clin Pract. 2015 Jan 14;2(1):93-98. doi: 10.1002/mdc3.12111. eCollection 2015 Mar.
2
Adult Chediak-Higashi parkinsonian syndrome with dystonia.成人伴有肌张力障碍的切-希二氏帕金森综合征
Mov Disord. 2000 Jul;15(4):705-8. doi: 10.1002/1531-8257(200007)15:4<705::aid-mds1016>3.0.co;2-b.
3
[Two adult siblings with Chédiak-Higashi syndrome presenting as hyperpigmentation of the skin and the iris].[两名患有切-希二氏综合征的成年兄弟姐妹，表现为皮肤和虹膜色素沉着过度]
Rinsho Shinkeigaku. 1999 Jul;39(7):735-8.
4
Chediak-Higashi syndrome with parkinsonism.伴有帕金森症的切-东综合征
Mov Disord. 2004 Apr;19(4):472-5. doi: 10.1002/mds.10677.
5
Partial oculocutaneous albinism in Mystromys albicaudatus: nonhomology with the Chediak-Higashi syndrome.
Lab Anim Sci. 1979 Feb;29(1):40-3.
6
Chediak-Higashi syndrome--a case report.
Indian J Pathol Microbiol. 2000 Jul;43(3):373-5.
7
Motor neuronopathy in Chediak-Higashi syndrome.
J Neurol Sci. 2014 Sep 15;344(1-2):203-7. doi: 10.1016/j.jns.2014.06.026. Epub 2014 Jun 21.
8
Do you know this syndrome? Chediak-Higashi syndrome.你知道这种综合征吗？切-东综合征。
An Bras Dermatol. 2011 Sep-Oct;86(5):1029. doi: 10.1590/s0365-05962011000500032.
9
Chediak-Higashi syndrome with progressive visual loss.伴有进行性视力丧失的切-希综合征
Jpn J Ophthalmol. 2003 May-Jun;47(3):304-6. doi: 10.1016/s0021-5155(03)00018-2.
10
Chédiak-Higashi syndrome. Neurologic appearance.切迪阿克-东综合征。神经系统表现。
Arch Neurol. 1984 Sep;41(9):1001-2. doi: 10.1001/archneur.1984.04050200111031.
引用本文的文献
1
Diffusion tensor imaging in Chediak Higashi Disease.切-东综合征的扩散张量成像
medRxiv. 2025 Aug 10:2025.08.06.25332949. doi: 10.1101/2025.08.06.25332949.
2
Identification of Novel Genetic Loci Affecting Age at Onset of Parkinson's Disease: A Genome-wide Association Study.影响帕金森病发病年龄的新型基因位点的鉴定：一项全基因组关联研究。
Mov Disord. 2025 Jan;40(1):77-86. doi: 10.1002/mds.30047. Epub 2024 Nov 6.
3
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.由于自噬缺陷导致的神经发育、神经肌肉和神经退行性疾病谱。
Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19.
4
Movement Disorders and Hematologic Diseases.运动障碍与血液系统疾病
Mov Disord Clin Pract. 2020 Dec 29;8(2):193-207. doi: 10.1002/mdc3.13129. eCollection 2021 Feb.
本文引用的文献
1
Motor neuronopathy in Chediak-Higashi syndrome.
J Neurol Sci. 2014 Sep 15;344(1-2):203-7. doi: 10.1016/j.jns.2014.06.026. Epub 2014 Jun 21.
2
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.常染色体隐性遗传复杂痉挛性截瘫伴新型溶酶体运输调节因子基因突变。
J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1024-8. doi: 10.1136/jnnp-2013-306981. Epub 2014 Feb 12.
3
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.非典型 Chédiak-Higashi 综合征伴衰减表型：三个成年同患一种新型 LYST 缺失的同胞，伴有神经退行性疾病。
Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46.
4
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.以早发型左旋多巴反应性帕金森综合征为表现的切-东综合征
Mov Disord. 2013 Feb;28(2):127-9. doi: 10.1002/mds.25386.
5
Lysosome-dependent pathways as a unifying theme in Parkinson's disease.溶酶体依赖途径作为帕金森病的一个统一主题。
Mov Disord. 2012 Sep 15;27(11):1364-9. doi: 10.1002/mds.25136. Epub 2012 Aug 23.
6
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.Chediak-Higashi 综合征伴早期发育迟缓，源于 1 号染色体的父源异源二体性。
Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389.
7
Oculocutaneous albinism.眼皮肤白化病
Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43.
8
[Chediak-Higashi syndrome].[切-东综合征]
Nervenarzt. 2006 Feb;77(2):148, 150-2, 155-7. doi: 10.1007/s00115-005-1989-3.
9
Presynaptic dopaminergic pathology in Chediak-Higashi syndrome with parkinsonian syndrome.伴有帕金森综合征的切-东综合征中的突触前多巴胺能病理学
Neurology. 2005 May 24;64(10):1814-5. doi: 10.1212/01.WNL.0000162025.31113.0C.
10
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.异基因骨髓移植治疗切-东综合征20年后的进行性神经功能障碍
Blood. 2005 Jul 1;106(1):40-2. doi: 10.1182/blood-2005-01-0319. Epub 2005 Mar 24.
Zotero 插件