The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 386-387

  Gonzalez del Rincon M D L ^a   Monroy Jaramillo, N ^a   Suárez Martínez, Ai ^a   Yescas Gomez P ^a   Boll Woehrlen, Mc ^b   Lopez Lopez M ^c   Alonso Vilatela, Me ^a  

^a Neurogenetics Department   (Mexico)

^b NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^c DEPARTAMENTO DE SISTEMAS BIOLÓGICOS   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BECK DEPRESSION INVENTORY; COGNISTAT TEST; COGNITIVE DEFECT; CONTROLLED STUDY; DEMENTIA; DSM-IV-TR; FEMALE; GAUCHER DISEASE; GENE; GENERALIZED ANXIETY DISORDER; HETEROZYGOSITY; HISPANIC; HUMAN; L444P GBA GENE; LETTER; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; MEXICO; MOOD CHANGE; MUTATIONAL ANALYSIS; OBSESSIVE COMPULSIVE DISORDER; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; PSYCHOLOGIC TEST; SMELLING DISORDER; STRUCTURED QUESTIONNAIRE;

AGE OF ONSET; AGED; CODON; FEMALE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MEXICO; MIDDLE AGED; MUTATION; PARKINSON DISEASE;

EID: 84883771008     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12084     Document Type: Letter

References (8)

1. Lesage S, Brice A. Role of Mendelian genes in "sporadic" Parkinson's disease. Parkinsonism Relat Disord 2012: 18S1: S66-S70.
2. Sidransky E, Nalls MA, Aasly JO et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009: 361 (17): 1651-1661.
3. Newmann J, Bras J, Deas E et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009: 132: 1783-1794.
4. Bras JM, Singleton A. Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta 2009: 1792: 597-603.
5. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004: 351 (19): 1972-1977.
6. Anheim M, Elbaz A, Lesage S et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012: 78: 417-420.
7. Gan-Or Z, Giladi N, Orr-Urtreger A. Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations. Brain 2009: 132 (Pt 10): e125.
8. Brockmann K, Srulijes K, Hauser AK, Schulte C. GBA associated PD presents with nonmotor characteristics. Neurology 2011: 77: 276-280.