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 - Suppr

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超能文献

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

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本文引用的文献

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.

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Retin Cases Brief Rep. 2011 Summer;5(3):262-6. doi: 10.1097/ICB.0b013e3181f047dd.

Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1.

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.

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.

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