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α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.

作者信息

Rashedi Ronak, Gelderblom Mathias, Prilop Lisa, Bester Maxim, Haack Tobias B, Zittel Simone

机构信息

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Mov Disord Clin Pract. 2024 Nov;11(11):1458-1461. doi: 10.1002/mdc3.14176. Epub 2024 Aug 12.

DOI:10.1002/mdc3.14176
PMID:39132899
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11542275/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5460/11542275/462e20b8fb0c/MDC3-11-1458-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5460/11542275/462e20b8fb0c/MDC3-11-1458-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5460/11542275/462e20b8fb0c/MDC3-11-1458-g001.jpg

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α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.一名患有共济失调、痉挛和节段性肌张力障碍患者的α-甲基酰基辅酶A消旋酶缺乏症
Mov Disord Clin Pract. 2024 Nov;11(11):1458-1461. doi: 10.1002/mdc3.14176. Epub 2024 Aug 12.
2
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.过氧化物酶体α-甲基酰基辅酶A消旋酶缺乏症中胆甾烷二羟酸和三羟酸非对映异构体的血浆分析
J Lipid Res. 2001 Jan;42(1):137-41.
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Eur J Clin Invest. 2001 Aug;31(8):714-22. doi: 10.1046/j.1365-2362.2001.00877.x.
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本文引用的文献

1
Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.遗传性肌张力障碍共济失调综合征：临床谱、诊断方法及治疗选择
Mov Disord Clin Pract. 2018 Jul 3;5(4):373-382. doi: 10.1002/mdc3.12635. eCollection 2018 Jul-Aug.
2
FUNDUS FINDINGS IN A PATIENT WITH α-METHLYACYL-COA RACEMASE DEFICIENCY.一名α-甲基乙酰辅酶A消旋酶缺乏症患者的眼底检查结果
Retin Cases Brief Rep. 2011 Summer;5(3):262-6. doi: 10.1097/ICB.0b013e3181f047dd.
3
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
MRI 特征分析诊断的成人发病的α-甲基酰基辅酶 A 消旋酶缺乏症，通过外显子组测序。
Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1.
4
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.α-甲基酰基辅酶A消旋酶（AMACR）突变导致迟发性常染色体隐性遗传性小脑共济失调。
Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484.
5
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency.由于过氧化物酶体α-甲基酰基辅酶A消旋酶缺乏导致的复发性横纹肌溶解症。
Neurology. 2010 Oct 5;75(14):1300-2. doi: 10.1212/WNL.0b013e3181f612a5.
6
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.一例成年发病的 α-甲基酰基辅酶 A 消旋酶缺乏症。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.
7
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.一名患有α-甲基酰基辅酶A消旋酶缺乏症患者的复发性脑病
J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50. doi: 10.1136/jnnp.2007.129478. Epub 2007 Nov 21.
8
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.α-甲基酰基辅酶A消旋酶缺乏症中的震颤和深部白质改变。
Neurology. 2004 Jul 13;63(1):188-9. doi: 10.1212/01.wnl.0000132841.81250.b7.
9
A new defect of peroxisomal function involving pristanic acid: a case report.一种涉及降植烷酸的过氧化物酶体功能新缺陷：病例报告
J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):396-9. doi: 10.1136/jnnp.72.3.396.
10
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.编码过氧化物酶体α-甲基酰基辅酶A消旋酶的基因突变会导致成人迟发性感觉运动神经病。
Nat Genet. 2000 Feb;24(2):188-91. doi: 10.1038/72861.