Parkinson's disease in patients and obligate carriers of Gaucher disease

Parkinsonism and Related Disorders

Volumn 19, Issue 1, 2013, Pages 129-131

  Becker, Joanna G ^a   Pastores, Gregory M ^b   Di Rocco, Alessandro ^a   Ferraris, Marissa ^b   Graber, Jerome J ^a   Sathe, Swati ^b  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY   (United States)

Author keywords

Gaucher disease; Glucocerebrosidase carriers; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; ETHNICITY; FEMALE; GAUCHER DISEASE; GBA GENE; GENE; GENE ACTIVITY; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; GAUCHER DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE;

EID: 84871487773     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.06.023     Document Type: Article

References (12)

1. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. New England Journal of Medicine 2009, 361:1651-1661.
2. Beutler E., Grabowski G. Gaucher disease. The metabolic and molecular bases of inherited disease 2001, 3635-3668. McGraw-Hill, New York. C.R. Scriver ALB, D. Valle, W.S. Sly (Eds.).
3. Halperin A., Elstein D., Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells, Molecules & Diseases 2006, 36:426-428.
4. Toft M., Pielsticker L., Ross O.A., Aasly J.O., Farrer M.J. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006, 66:415-417.
5. Tanner C.M., Gilley D.W., Goetz C.G. A brief screening questionnaire for parkinsonism. Annals of Neurology 1990, 28:267-268.
6. Duarte J., Clavería L.E., De Pedro-Cuesta J., Sempere A.P., Coria F., Calne D.B. Screening Parkinson's disease: a validated questionnaire of high specificity and sensitivity. Movement Disorders 1995, 10:643-649.
7. Neudorfer O., Giladi N., Elstein D., Abrahamov A., Turezkite T., Aghai E., et al. Occurrence of Parkinson's syndrome in type 1 Gaucher disease. QJM: An International Journal of Medicine 1996, 89:691-694.
8. Wong K., Sidransky E., Verma A., Mixon T., Sandberg G.D., Wakefield L.K., et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Molecular Genetics and Metabolism 2004, 82:192-207.
9. Goker-Alpan O., Giasson B.I., Eblan M.J., Nguyen J., Hurtig H.I., Lee V.M., et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006, 67:908-910.
10. Clark L.N., Nicolai A., Afridi S., Harris J., Mejia-Santana H., Strug L., et al. Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Movement Disorders 2005, 20:100-103.
11. de Lau L.M.L., Breteler M.M.B. Epidemiology of Parkinson's disease. The Lancet Neurology 2006, 5:525-535.
12. Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clinical Genetics 2006, 70:275-282.