Mol Genet Metab. 2004 Jan;81(1):70-3.

Glucocerebrosidase mutations in subjects with parkinsonism.

Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E.

Source

Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892-4405, USA.

Abstract

Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease. Alterations in GBA were identified in 12 samples (21%) and were more frequent among the younger subjects. These included eight with mutations (N370S, L444P, K198T, and R329C) and four with probable polymorphisms (T369M and E326K). Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism.

PMID:: 14728994; [PubMed - indexed for MEDLINE]

MeSH Terms, Substances

MeSH Terms

Substances

Glucosylceramidase

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Parkinsonism among Gaucher disease carriers. [J Med Genet. 2004]
Parkinsonism among Gaucher disease carriers.
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. J Med Genet. 2004 Dec; 41(12):937-40.
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. [Arch Neurol. 2008]
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. Arch Neurol. 2008 Oct; 65(10):1353-7.
Review The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. [Mov Disord. 2009]
Review The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. Mov Disord. 2009 Aug 15; 24(11):1571-8.
Review Gaucher disease: complexity in a "simple" disorder. [Mol Genet Metab. 2004]
Review Gaucher disease: complexity in a "simple" disorder.
Sidransky E. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):6-15.
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. [Hum Mutat. 2004]
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M, Chabás A, Vilageliu L, Grinberg D. Hum Mutat. 2004 Jun; 23(6):567-75.

See reviews... See all...

Cited by 42 PubMed Central articles

Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China. [Behav Brain Funct. 2012]
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China.
Wang Y, Liu L, Xiong J, Zhang X, Chen Z, Yu L, Chen C, Huang J, Zhang Z, Mohmed AA, et al. Behav Brain Funct. 2012 Dec 10; 8:57. Epub 2012 Dec 10.
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies. [Front Neurol. 2012]
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Almeida Mdo R. Front Neurol. 2012; 3:65. Epub 2012 Apr 27.
The cognitive profile of type 1 Gaucher disease patients. [J Inherit Metab Dis. 2012]
The cognitive profile of type 1 Gaucher disease patients.
Biegstraaten M, Wesnes KA, Luzy C, Petakov M, Mrsic M, Niederau C, Giraldo P, Hughes D, Mehta A, Mengel KE, et al. J Inherit Metab Dis. 2012 Nov; 35(6):1093-9. Epub 2012 Feb 21.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Glucocerebrosidase mutations in subjects with parkinsonism.
Glucocerebrosidase mutations in subjects with parkinsonism.
Mol Genet Metab. 2004 Jan ;81(1):70-3.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: