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Severe orthostatic dysregulation associated with Wolfram syndrome.

作者信息

Synofzik Matthis, Weiss Daniel, Erharhaghen Jite, Krüger Rejko, Schöls Ludger

出版信息

J Neurol. 2010 Oct;257(10):1751-3. doi: 10.1007/s00415-010-5593-5. Epub 2010 May 19.

DOI:10.1007/s00415-010-5593-5

PMID:20490821

Abstract

摘要

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Severe orthostatic dysregulation associated with Wolfram syndrome.

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本文引用的文献

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809.

Schellong test in orthostatic dysregulation: a comparison with tilt-table testing.

Wien Klin Wochenschr. 2005 Jan;117(1-2):36-41. doi: 10.1007/s00508-004-0288-5.

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

J Clin Endocrinol Metab. 2004 Apr;89(4):1656-61. doi: 10.1210/jc.2002-030015.

Brainstem in multiple system atrophy: clinicopathological correlations.

Cell Mol Neurobiol. 2003 Oct;23(4-5):519-26. doi: 10.1023/a:1025067912199.

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Lancet. 1995 Dec 2;346(8988):1458-63. doi: 10.1016/s0140-6736(95)92473-6.

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相似文献

Severe orthostatic dysregulation associated with Wolfram syndrome.

J Neurol. 2010 Oct;257(10):1751-3. doi: 10.1007/s00415-010-5593-5. Epub 2010 May 19.

Be aware of Wolfram syndrome when examining ataxic patients.

J Neurol. 2016 Sep;263(9):1862-3. doi: 10.1007/s00415-016-8199-8. Epub 2016 Jun 17.

Orthostatic Changes in Blood Pressure and Cognitive Status in the Elderly: The Progetto Veneto Anziani Study.

Hypertension. 2016 Aug;68(2):427-35. doi: 10.1161/HYPERTENSIONAHA.116.07334. Epub 2016 Jun 20.

Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis.

Schizophr Res. 2018 May;195:574-575. doi: 10.1016/j.schres.2017.09.044. Epub 2017 Oct 3.

Orthostatic hypotension acutely impairs executive functions in Parkinson's disease.

Neurol Sci. 2018 Aug;39(8):1459-1462. doi: 10.1007/s10072-018-3394-2. Epub 2018 Apr 7.

[The "idiopathic" orthostatic hypotension syndrome].

Riv Sper Freniatr Med Leg Alien Ment. 1970 Dec 3;94(6):1567-71.

[Wolfram syndrome: clinical and genetic analysis in two sisters].

J Fr Ophtalmol. 2011 Oct;34(8):543-6. doi: 10.1016/j.jfo.2011.02.014. Epub 2011 May 31.

Inter-Relations of Orthostatic Blood Pressure Change, Aortic Stiffness, and Brain Structure and Function in Young Adults.

J Am Heart Assoc. 2017 Aug 17;6(8):e006206. doi: 10.1161/JAHA.117.006206.

Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.

Neurology. 1992 Jun;42(6):1220-4. doi: 10.1212/wnl.42.6.1220.

[Wolfram Syndrome: Report of 2 hereditary cases].

J Fr Ophtalmol. 2021 Apr;44(4):e245-e248. doi: 10.1016/j.jfo.2020.05.030. Epub 2021 Jan 21.

引用本文的文献

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Am J Hum Genet. 2014 Dec 4;95(6):689-97. doi: 10.1016/j.ajhg.2014.10.013. Epub 2014 Nov 20.

本文引用的文献

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809.

Schellong test in orthostatic dysregulation: a comparison with tilt-table testing.

Wien Klin Wochenschr. 2005 Jan;117(1-2):36-41. doi: 10.1007/s00508-004-0288-5.

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

J Clin Endocrinol Metab. 2004 Apr;89(4):1656-61. doi: 10.1210/jc.2002-030015.

Brainstem in multiple system atrophy: clinicopathological correlations.

Cell Mol Neurobiol. 2003 Oct;23(4-5):519-26. doi: 10.1023/a:1025067912199.

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Lancet. 1995 Dec 2;346(8988):1458-63. doi: 10.1016/s0140-6736(95)92473-6.