OPA1 基因突变导致的显性视神经萎缩、神经病变、共济失调、白质 FLAIR 高信号、小脑中脚萎缩和乏力 - Suppr

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Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

作者信息

Magnin Eloi, Allibert Remi, Berger Eric, Dollfus Helene, Rumbach Lucien

机构信息

Department of Neurology, CHU Besançon, Besançon, France.

出版信息

Eur Neurol. 2012;67(5):287. doi: 10.1159/000336743. Epub 2012 Apr 3.

DOI:10.1159/000336743

PMID:22472598

Abstract

摘要

相似文献

Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

Eur Neurol. 2012;67(5):287. doi: 10.1159/000336743. Epub 2012 Apr 3.

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.

Neurology. 2008 Mar 25;70(13 Pt 2):1152-3. doi: 10.1212/01.wnl.0000289194.89359.a1. Epub 2008 Feb 20.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10.

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.

Neurology. 2011 Sep 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Brain. 2012 Dec;135(Pt 12):3599-613. doi: 10.1093/brain/aws303.

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):481-5.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Neurology. 2005 Mar 22;64(6):966-72. doi: 10.1212/01.WNL.0000157282.76715.B1.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4.

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Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

作者信息

Magnin Eloi, Allibert Remi, Berger Eric, Dollfus Helene, Rumbach Lucien

机构信息

Department of Neurology, CHU Besançon, Besançon, France.

出版信息

Eur Neurol. 2012;67(5):287. doi: 10.1159/000336743. Epub 2012 Apr 3.

DOI:10.1159/000336743

PMID:22472598

Abstract

摘要

相似文献

Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

Eur Neurol. 2012;67(5):287. doi: 10.1159/000336743. Epub 2012 Apr 3.

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.

Neurology. 2008 Mar 25;70(13 Pt 2):1152-3. doi: 10.1212/01.wnl.0000289194.89359.a1. Epub 2008 Feb 20.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10.

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.

Neurology. 2011 Sep 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Brain. 2012 Dec;135(Pt 12):3599-613. doi: 10.1093/brain/aws303.

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):481-5.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Neurology. 2005 Mar 22;64(6):966-72. doi: 10.1212/01.WNL.0000157282.76715.B1.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4.