Teive et al., 20017. Teive HA, Raskin S, Iwamoto FM, Germiniani FM, Baran MH, Werneck LC, et al. The G209A Mutation in the Alpha-Synuclein Gene in Brazilian Families With Parkinson's Disease. Arq Neuropsiquiatr. 2001 Sept;59(3-B):722-4. https://doi.org/10.1590/s0004-282x2001000500013
https://doi.org/10.1590/s0004-282x200100...
|
Family study |
10 |
SNCA
|
PCR-RFLP |
No pathogenic mutations found |
[7] |
Rawal et al., 20038. Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, et al. New Parkin Mutations and Atypical Phenotypes in Families with Autosomal Recessive Parkinsonism. Neurology. 2003 Apr;60(8):1378-81. https://doi.org/10.1212/01.wnl.0000056167.89221.be
https://doi.org/10.1212/01.wnl.000005616...
|
Family study |
4 |
PRKN
|
Sequencing and PCR-RFLP |
PRKN: Ex4 del - 1, Ex6 del - 1, pAsn52* - 1 |
[8] |
Bertolli-Avella et al., 20059. Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, et al. Novel Parkin Mutations Detected in Patients With Early-Onset Parkinson's Disease. Mov Disord. 2005 Apr;20(4):424-31. https://doi.org/10.1002/mds.20343
https://doi.org/10.1002/mds.20343...
|
Mutation screening |
4 |
PRKN
|
Sequencing and PCR-RFLP |
No pathogenic mutations found |
[9] |
|
Clarimon et al., 200510. Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, et al. Defining the Ends of Parkin Exon 4 Deletions in Two Different Families With Parkinson's Disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb;133B(1):120-3.
|
Family study |
6 |
PRKN
|
Sequencing |
PRKN: Ex4 del - 1 |
[10] |
DiFonzo et al., 200511. Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, et al. A Frequent LRRK2 Gene Mutation Associated with Autosomal Dominant Parkinson's Disease. Lancet. 2005 Jan-Feb;365(9457):412-5. https://doi.org/10.1016/s0140-6736(05)17829-5
https://doi.org/10.1016/s0140-6736(05)17...
|
Family study |
9 |
LRRK2
|
Sequencing |
LRRK2: pG2019S - 1 |
[11] |
Bonifati et al., 200512. Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, et al. Early-onset Parkinsonism Associated With PINK1 Mutations: Frequency, Genotypes, and Phenotypes. Neurology. 2005 Jul;65(1):87-95. https://doi.org/10.1212/01.wnl.0000167546.39375.82
https://doi.org/10.1212/01.wnl.000016754...
|
Mutation screening |
8 |
PINK1
|
Sequencing |
No pathogenic mutations found |
[12] |
Khan et al., 200513. Khan NL, Horta W, Eunson L, Graham E, Johnson JO, Chang S, et al. Parkin Disease in a Brazilian Kindred: Manifesting Heterozygotes and Clinical Follow-Up Over 10 Years. Mov Disord. 2005 Apr;20(4):479-84. https://doi.org/10.1002/mds.20335
https://doi.org/10.1002/mds.20335...
|
Family study |
6 |
PRKN
|
Sequencing |
PRKN: Ex4 del - 6 |
[13] |
Chien et al., 200614. Chien HF, Rohé CF, Costa MDL, Breedveld GJ, Oostra BA, Barbosa ER, et al. Early-onset Parkinson's Disease Caused by a Novel Parkin Mutation in a Genetic Isolate From North-Eastern Brazil. Neurogenetics. 2006 Mar;7(1):13-9. https://doi.org/10.1007/s10048-005-0017-x
https://doi.org/10.1007/s10048-005-0017-...
|
Family study |
10 |
PRKN, PINK1, DJ1
|
Sequencing and PCR-RFLP |
PRKN: IVS1+1G/T - 10 |
[14] |
DiFonzo et al., 200615. Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, et al. Comprehensive Analysis of the LRRK2 Gene in Sixty Families With Parkinson's Disease. Eur J Hum Genet. 2006 Mar;14(3):322-31. https://doi.org/10.1038/sj.ejhg.5201539
https://doi.org/10.1038/sj.ejhg.5201539...
|
Family study |
9 |
LRRK2
|
Sequencing |
No pathogenic mutations found |
[15] |
DiFonzo et al., 200716. Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, et al. ATP13A2 Missense Mutations in Juvenile Parkinsonism and Young Onset Parkinson Disease. Neurology. 2007 May;68(19):1557-62. https://doi.org/10.1212/01.wnl.0000260963.08711.08
https://doi.org/10.1212/01.wnl.000026096...
|
Mutation screening |
92 |
ATP13A2
|
Sequencing |
ATP13A2: pGly504Arg - 1 |
[16] |
Lesage et al., 200717. Lesage S, Magali P, Lohmann E, Lacomblez L, Teive H, Janin S, et al. Deletion of the Parkin and PACRG Gene Promoter in Early-Onset Parkinsonism. Hum Mutat. 2007 Jan;28(1):27-32. https://doi.org/10.1002/humu.20436
https://doi.org/10.1002/humu.20436...
|
Mutation screening |
ND |
PRKN
|
Sequencing |
PRKN: Prom+Ex1 del - 1 |
[17] |
Aguiar et al., 200818. Aguiar PC, Lessa PS, Godeiro Jr C, Barsottini O, Felício AC, Borges V, et al. Genetic and Environmental Findings in Early-Onset Parkinson's Disease Brazilian Patients. Mov Disord. 2008 Jul;23(9):1228-33. https://doi.org/10.1002/mds.22032
https://doi.org/10.1002/mds.22032...
|
Mutation screening |
72 |
PRKN, LRRK2
|
Sequencing and qPCR |
LRRK2: pG2019S - 4; PRKN: Ex3 del/N58QfsX39 - 4, pK211N - 1, Ex11 del/A390EfsX6 - 1, c1286-3G>C - 1 |
[18] |
Munhoz et al., 200819. Munhoz RP, Wakutani Y, Marras C, Teive HA, Raskin S, Werneck LC, et al. The G2019S LRRK2 Mutation in Brazilian Patients With Parkinson's Disease: Phenotype in Monozygotic Twins. Mov Disord. 2008 Jan;23(2):290-4. https://doi.org/10.1002/mds.21832
https://doi.org/10.1002/mds.21832...
|
Mutation screening |
83 |
LRRK2
|
PCR-RFLP |
LRRK2: p2019S - 6 |
[19] |
Pimentel et al., 200820. Pimentel MMG, Moura KCV, Abdalla CB, Pereira JS, Rosso ALZ, Nicaretta DH, et al. A Study of LRRK2 Mutations and Parkinson's Disease in Brazil. Neurosci Lett. 2008 Mar;433(1):17-21. https://doi.org/10.1016/j.neulet.2007.12.033
https://doi.org/10.1016/j.neulet.2007.12...
|
Mutation screening |
147 |
LRRK2
|
Sequencing |
LRRK2: p2019S - 3 |
[20] |
Santos-Rebouças et al., 200821. Santos-Rebouças CB, Abdalla CB, Baldi FJR, Martins PA, Corrêa JC, Gonçalves AP, et al. Co-occurrence of Sporadic Parkinsonism and Late-Onset Alzheimer's Disease in a Brazilian Male With the LRRK2 p.G2019S Mutation. Genet Test. 2008 Dec;12(4):471-3. https://doi.org/10.1089/gte.2008.0042
https://doi.org/10.1089/gte.2008.0042...
|
Case report / series |
1 |
LRRK2
|
PCR-RFLP |
LRRK2: p2019S - 1 |
[21] |
Godeiro-Junior et al., 200922. Godeiro Jr C, Aguiar PMC, Felício AC, Barsottini OGP, Silva SMA, Borges V, et al. PINK1 Polymorphism IVS1-7 A-->G, Exposure to Environmental Risk Factors and Anticipation of Disease Onset in Brazilian Patients With Early-Onset Parkinson's Disease. Neurosci Lett. 2010 Jan;469(1):155-8. https://doi.org/10.1016/j.neulet.2009.11.064
https://doi.org/10.1016/j.neulet.2009.11...
|
Mutation screening |
60 |
PINK1
|
Sequencing |
No pathogenic mutations found |
[22] |
Barsottini et al., 200923. Barsottini OGP, Felício AC, Aguiar PC, Godeiro-Junior C, Shih MC, Hoexter MQ, et al. Clinical and Molecular Neuroimaging Characteristics of Brazilian Patients With Parkinson's Disease and Mutations in PARK2 or PARK8 Genes. Arq Neuropsiquiatr. 2009 Mar;67(1):7-11. https://doi.org/10.1590/s0004-282x2009000100003
https://doi.org/10.1590/s0004-282x200900...
|
Mutation screening |
119 |
PRKN, LRRK2
|
Sequencing and qPCR |
No pathogenic mutations found |
[23] |
Camargos et al., 200924. Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, et al. Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic: Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations. Mov Disord. 2009 Apr;24(5):662-6. https://doi.org/10.1002/mds.22365
https://doi.org/10.1002/mds.22365...
|
Mutation screening |
53 |
SNCA, PRKN, LRRK2, PINK1
|
Sequencing |
LRRK2: pQ923H - 1; PRKN: Dup Ex5 - 1, pP253R - 1, pW54R - 1, pV3I - 1, pAsn52* - 2, pT240M - 2; PINK1: Ex7 del - 1 |
[24] |
Santos et al., 201025. Santos AV, Pestana CP, Diniz KRS, Campos M, Abdalla-Carvalho CB, Rosso ALZ, et al. Mutational Analysis of GIGYF2, ATP13A2 and GBA Genes in Brazilian Patients With Early-Onset Parkinson's Disease. Neurosci Lett. 2010 Nov;485(2):121-4. https://doi.org/10.1016/j.neulet.2010.08.083
https://doi.org/10.1016/j.neulet.2010.08...
|
Mutation screening |
110 |
ATP13A2
|
Sequencing and PCR-RFLP |
No pathogenic mutations found |
[25] |
Abdalla-Carvalho et al., 201026. Abdalla-Carvalho CB, Santos-Rebouças CB, Guimarães BC, Campos M, Pereira JS, Rosso ALZ, et al. Genetic Analysis of LRRK2 Functional Domains in Brazilian Patients With Parkinson's Disease. Eur J Neurol. 2010 Dec;17(12):1479-81. https://doi.org/10.1111/j.1468-1331.2010.03039.x
https://doi.org/10.1111/j.1468-1331.2010...
|
Mutation screening |
197 |
LRRK2
|
Sequencing |
LRRK2: pT1410M - 4, pG2019 - 2, pC2139S - 1, pY2189C - 2 |
[26] |
Moura et al., 201227. Moura KCV, Campos Junior M, Rosso ALZ, Nicaretta DH, Pereira JS, Silva DJ, et al. Exon Dosage Variations in Brazilian Patients With Parkinson's Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes. Dis Markers. 2012;32(3):173-8. https://doi.org/10.3233/dma-2011-0873
https://doi.org/10.3233/dma-2011-0873...
|
Mutation screening |
102 |
SNCA, PRKN, PINK1, DJ1
|
MLPA and qPCR |
PRKN: Ex4 del - 1, Ex5-6 del - 1, Dup Ex3 - 1, Dup Ex4 - 1 |
[27] |
Moura et al., 201328. Moura KCV, Campos Junior M, Rosso ALZ, Nicaretta DH, Pereira JS, Silva DJ, et al. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease. Dis Markers. 2013;35(3):181-5. https://doi.org/10.1155/2013/597158
https://doi.org/10.1155/2013/597158...
|
Mutation screening |
136 |
PRKN, PINK1
|
MLPA, allelic discrimination and PCR-RFLP |
PRKN: pT240M - 1 |
[28] |
Quadri et al., 201329. Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, et al. Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism. Hum Mutat. 2013 Sept;34(9):1208-15. https://doi.org/10.1002/humu.22373
https://doi.org/10.1002/humu.22373...
|
Mutation screening |
31 |
SYNJ1
|
Sequencing |
No pathogenic mutations found |
[29] |
Chien et al., 201430. Chien HF, Figueiredo TR, Hollaender MA, Tofoli F, Takada LT, Pereira LV, et al. Frequency of the LRRK2 G2019S Mutation in Late-Onset Sporadic Patients With Parkinson's Disease. Arq Neuropsiquiatr. 2014 May;72(5):356-9. https://doi.org/10.1590/0004-282x20140019
https://doi.org/10.1590/0004-282x2014001...
|
Mutation screening |
100 |
LRRK2
|
PCR-RFLP |
No pathogenic mutations found |
[30] |
|
Bertucci-Filho et al., 201431. Bertucci Filho D, Munhoz RP, Lesage S, Brice A, Raskin S, Teive HAG. Prevalence and Phenotype of patients with PARK2 or PARK8 Gene Mutations in an Early-Onset Parkinsonism Brazilian Cohort. J J Neur Neurosci. 2014;1(2):003.
|
Mutation screening |
69 |
PRKN, LRRK2
|
Sequencing |
LRRK2: pG2019S - 1; PRKN: Dup Ex2-3 - 1, pAsn52fs - 2, pArg256Cys - 1 |
[31] |
Longo et al., 201532. Longo GS, Pinhel MAS, Gregório ML, Oliveira BAP, Quinhoneiro DCG, Tognola WA, et al. Alpha-synuclein A53T Mutation Is Not Frequent on a Sample of Brazilian Parkinson's Disease Patients. Arq Neuropsiquiatr. 2015 Jun;73(6):506-9. https://doi.org/10.1590/0004-282x20150032
https://doi.org/10.1590/0004-282x2015003...
|
Mutation screening |
154 |
SNCA
|
PCR-RFLP |
No pathogenic mutations found |
[32] |
Pimentel et al., 201533. Pimentel MMG, Rodrigues FC, Leite MAA, Campos Júnior M, Rosso AL, Nicaretta DH, et al. Parkinson Disease: α-synuclein Mutational Screening and New Clinical Insight Into the p.E46K Mutation. Parkinsonism Relat Disord. 2015 Jun;21(6):586-9. https://doi.org/10.1016/j.parkreldis.2015.03.011
https://doi.org/10.1016/j.parkreldis.201...
|
Mutation screening |
549 |
SNCA
|
Sequencing and qPCR |
No pathogenic mutations found |
[33] |
Spitz et al., 201534. Spitz M, Pereira JS, Nicareta DH, Abreu GM, Bastos EF, Seixas TL, et al. Association of LRRK2 and GBA Mutations in a Brazilian Family With Parkinson's Disease. Parkinsonism Relat Disord. 2015 Jul;21(7):825-6. https://doi.org/10.1016/j.parkreldis.2015.03.029
https://doi.org/10.1016/j.parkreldis.201...
|
Case report / series |
1 |
LRRK2
|
Sequencing and PCR-RFLP |
LRRK2: pG2019S - 1 |
[34] |
Olgiati et al., 201635. Olgiati S, Quadri M, Fang M, Rood JPMA, Saute JA, Chien HF, et al. DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease. Ann Neurol. 2016 Feb;79(2):244-56. https://doi.org/10.1002/ana.24553
https://doi.org/10.1002/ana.24553...
|
Mutation screening |
39 |
DNAJC6
|
Sequencing |
DNAJC6: pThr741= - 2, c1468+83del - 1, c2038+3A>G - 1 |
[35] |
Abreu et al., 201636. Abreu GM, Valença DCT, Campos Júnior M, Silva CP, Pereira JS, Leite MAA, et al. Autosomal Dominant Parkinson's Disease: Incidence of Mutations in LRRK2, SNCA, VPS35 and GBA Genes in Brazil. Neurosci Lett. 2016 Dec;635:67-70. https://doi.org/10.1016/j.neulet.2016.10.040
https://doi.org/10.1016/j.neulet.2016.10...
|
Mutation screening |
141 |
SNCA, LRRK2, VPS35
|
Allelic discrimination and sequencing |
LRRK2: pG2019S - 5 |
[36] |
Cornejo-Olivas et al., 201737. Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, et al. Variable Frequency of LRRK2 Variants in the Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD), a Case of Ancestry. NPJ Parkinsons Dis. 2017 Jun;3:19. https://doi.org/10.1038/s41531-017-0020-6
https://doi.org/10.1038/s41531-017-0020-...
|
Mutation screening |
433 |
LRRK2
|
Allelic discrimination and sequencing |
LRRK2: pG2019S - 6, pR1441C - 1 |
[37] |
Silva et al., 201738. Silva CP, Abreu GM, Acero PHC, Campos Júnior M, Pereira JS, Ramos SRA, et al. Clinical Profiles Associated With LRRK2 and GBA Mutations in Brazilians With Parkinson's Disease. J Neurol Sci. 2017 Oct;381:160-4. https://doi.org/10.1016/j.jns.2017.08.3249
https://doi.org/10.1016/j.jns.2017.08.32...
|
Mutation screening |
131 |
LRRK2
|
Sequencing and PCR-RFLP |
LRRK2: pG2019S - 5 |
[38] |
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