Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients

Parkinsonism and Related Disorders

Volumn 18, Issue 5, 2012, Pages 688-689

  de Carvalho Guimarães, Beatriz ^a   Valente Pereira, Ana Carolina ^a   da Costa Rodrigues, Fabíola ^a   Vaz dos Santos, Adriana ^a   Júnior, Mário Campos ^a   Mendonça dos Santos, Jussara ^a   Lima dos Santos, Flávia ^a   Zuma de Rosso, Ana Lúcia ^b   Nicaretta, Denise Hack ^c   Pereira, João Santos ^d   José da Silva, Delson ^e,f   Della Coletta, Marcus Vinicius ^g   Santos Rebouças, Cíntia Barros ^a   Gonçalves Pimentel, Márcia Mattos ^a  

^a STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^c GAMA FILHO UNIVERSITY   (Brazil)

^d UNIVERSIDADE DO ESTADO DO RIO DE JANEIRO   (Brazil)

^e FEDERAL UNIVERSITY OF GOIÁS   (Brazil)

^f Instituto Integrado de Neurociências   (Brazil)

^g FEDERAL UNIVERSITY OF AMAZONAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSYLCERAMIDASE;

ADULT; AGED; BRAZILIAN; CONTROLLED STUDY; DNA ISOLATION; ETHNIC GROUP; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GLUCOCEREBROSIDASE GENE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; RISK FACTOR;

ADULT; AGE FACTORS; AGED; BRAZIL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84861186077     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.11.028     Document Type: Letter

References (5)

1. Schulte C., Gasser T. Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. Appl Clin Genet 2011, 4:67-80.
2. dos Santos A.V., Pestana C.P., Diniz K.R.D., Campos M., Abdalla-Carvalho C.B., de Rosso A.L.Z., et al. Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease. Neurosci Lett 2010, 485:121-124.
3. Velayati A., Yu W.H., Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010, 10:190-198.
4. Spitz M., Rozenberg R., Pereira Lda V., Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord 2008, 14:58-62.
5. Gan-Or Z., Giladi N., Rozovski U., Shifrin C., Rosner S., Gurevich T., et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008, 70:2277-2283.