Rapid screening of ATP13A2 variant with highresolution melting analysis

Movement Disorders

Volumn 25, Issue 14, 2010, Pages 2434-2437

  Funayama, Manabu ^a,b   Tomiyama, Hiroyuki ^a   Wu, Ruey Meei ^c   Ogaki, Kotaro ^a   Yoshino, Hiroyo ^b   Mizuno, Yoshikuni ^b   Hattori, Nobutaka ^a,b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b JUNTENDO UNIVERSITY   (Japan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Gene risk factor; Lightscanner; PARK9; Parkinson's disease

Indexed keywords

ADULT; AGED; ARTICLE; ATP13A2 GENE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HIGH RESOLUTION MELTING CURVE ANALYSIS; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CROSS-CULTURAL COMPARISON; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HUMANS; JAPAN; MALE; MIDDLE AGED; PARKINSON DISEASE; PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 77958548191     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23106     Document Type: Article

References (19)

1. Mueller JC, Fuchs J, Hofer A, et al. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 2005; 57: 535-541.
2. Mizuta I, Satake W, Nakabayashi Y, et al. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 2006; 15: 1151-1158.
3. Di Fonzo A, Wu-Chou YH, Lu CS, et al. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 2006; 7: 133-138.
4. 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.
5. Nichols WC, Pankratz N, Marek DK, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009; 72: 310-316.
6. Funayama M, Li Y, Tomiyama H, Yoshino H, et al. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 2007; 18: 273-275.
7. Ross OA, Wu YR, Lee MC, et al. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol 2008; 64: 88-92.
8. Lin CH, Tan EK, Chen ML, et al. Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. Neurology 2008; 71: 1727-1732.
9. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605-608.
10. Kumazawa R, Tomiyama H, Li Y, et al. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol 2008; 65: 802-808.
11. Tomiyama H, Li Y, Yoshino H, et al. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. Neurosci Lett 2009; 455: 159-161.
12. Nishioka K, Hayashi S, Farrer MJ, et al. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol 2006; 59: 298-309.
13. Tomiyama H, Li Y, Funayama M, et al. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 2006; 21: 1102-1108.
14. Ning YP, Kanai K, Tomiyama H, et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology 2008; 70: 1491-1493.
15. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
16. Zhou L, Wang L, Palais R, Pryor R, Wittwer CT. High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem 2005; 51: 1770-1777.
17. Van Der Stoep N, Van Paridon CD, Janssens T, et al. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 2009; 30: 899-909.
18. Ramirez A, Heimbach A, Gründemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006; 38: 1184-1191.
19. Di Fonzo A, Chien HF, Socal M, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007; 68: 1557-1562.