Glucocerebrosidase mutations are also found in subjects with early-onset Parkinsonism from Venezuela [1]

Movement Disorders

Volumn 21, Issue 2, 2006, Pages 282-283

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

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

^d Instituto Internacional de Estudios Avanzados IDEA   (Venezuela)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

COHORT ANALYSIS; DISEASE COURSE; DNA POLYMORPHISM; ETHNOLOGY; EXON; FAMILY STUDY; GAUCHER DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEALTH CARE FACILITY; HUMAN; INCIDENCE; LETTER; MEDICAL RESEARCH; MORTALITY; ONSET AGE; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; PUBLICATION; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; VENEZUELA;

ALLELES; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FOUNDER EFFECT; GAUCHER DISEASE; GENE FREQUENCY; GENETIC SCREENING; GLUCOSYLCERAMIDASE; HUMANS; JEWS; PARKINSON DISEASE; PARKINSONIAN DISORDERS; POLYMORPHISM, GENETIC; REFERENCE VALUES; VENEZUELA;

EID: 33644935848     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20766     Document Type: Letter

References (11)

1. Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord 2005;20:100-103.
2. Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367-370.
3. Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. Q J Med 1996;89:691-694.
4. Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003;79:104-109.
5. Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004;82:192-207.
6. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004;41:937-940.
7. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
8. Eblan MJ, Walker JM, Sidransky E. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005; 352:728-731; author reply 728-731.
9. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
10. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777-1786.
11. Dvir H, Harel M, McCarthy AA, et al. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep 2003;4:704-709.