在来自委内瑞拉的早发性帕金森病患者中也发现了葡萄糖脑苷脂酶突变。 - Suppr

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

作者信息

Eblan Michael J, Nguyen Joann, Ziegler Shira G, Lwin Alicia, Hanson Melissa, Gallardo Marisol, Weiser Roberto, De Lucca Marisel, Singleton Andrew, Sidransky Ellen

出版信息

Mov Disord. 2006 Feb;21(2):282-3. doi: 10.1002/mds.20766.

DOI:10.1002/mds.20766

PMID:16261622

Abstract

摘要

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Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

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Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Mov Disord. 2006 Feb;21(2):282-3. doi: 10.1002/mds.20766.

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

Neurology. 2005 Nov 8;65(9):1460-1. doi: 10.1212/01.wnl.0000176987.47875.28. Epub 2005 Sep 7.

Parkinsonism among Gaucher disease carriers.

J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455.

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024.

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

N Engl J Med. 2005 Feb 17;352(7):728-31; author reply 728-31.

Gaucher disease and parkinsonism.

Mol Genet Metab. 2005 Apr;84(4):302-4. doi: 10.1016/j.ymgme.2004.11.007. Epub 2005 Jan 26.

Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.

Am J Med Genet. 1998 Jul 7;78(3):233-6.

Gaucher disease: complexity in a "simple" disorder.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. doi: 10.1016/j.ymgme.2004.08.015.

Parkinsonism in type 1 Gaucher's disease.

J Neurol Neurosurg Psychiatry. 2006 May;77(5):709-10. doi: 10.1136/jnnp.2005.076240.

Detection of 12 new mutations in Gaucher disease Brazilian patients.

Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9. doi: 10.1016/j.bcmd.2006.09.004. Epub 2006 Oct 23.

引用本文的文献

Lack of full sequencing GBA1 studies for patients with Parkinson's disease in Latin America.

NPJ Parkinsons Dis. 2022 Aug 8;8(1):101. doi: 10.1038/s41531-022-00358-z.

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations.

Parkinsonism Relat Disord. 2020 Apr;73:16-18. doi: 10.1016/j.parkreldis.2020.03.008. Epub 2020 Mar 12.

, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Cells. 2019 Apr 19;8(4):364. doi: 10.3390/cells8040364.

GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Curr Neurol Neurosci Rep. 2018 Jun 8;18(8):44. doi: 10.1007/s11910-018-0860-4.

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

J Neurol. 2018 Aug;265(8):1789-1794. doi: 10.1007/s00415-018-8908-6. Epub 2018 May 29.

Frequency of variants in autopsy-proven multiple system atrophy.

Mov Disord Clin Pract. 2017 Jul-Aug;4(4):574-581. doi: 10.1002/mdc3.12481. Epub 2017 Apr 3.

Differential effects of severe vs mild GBA mutations on Parkinson disease.

Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.

J Hum Genet. 2015 Feb;60(2):85-90. doi: 10.1038/jhg.2014.110. Epub 2014 Dec 18.

Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Mol Neurobiol. 2015;51(3):1554-68. doi: 10.1007/s12035-014-8832-4. Epub 2014 Aug 7.

Glucocerebrosidase is shaking up the synucleinopathies.

Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14.

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

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