Lücking CB, Abbas N, Dürr A, Bonifati V, Bonnet AM, de Broucker T, De Michele G, Wood NW, Agid Y, Brice A. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 352: 1355-6, 1998 (PubMed ID: 9802278)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex8-9del (breakpoints not mapped))

ID: 204

Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44: 935-41, 1998 (PubMed ID: 9851438)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (Ser167Asn) (Gly179fs)

ID: 198

Nisipeanu P, Inzelberg R, Blumen SC, Carasso RL, Hattori N, Matsumine H, Mizuno Y. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. Neurology 53: 1602-4, 1999 (PubMed ID: 10534280)

Mutations

PARK2: (ex3del (breakpoints not mapped))

ID: 205

Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123: 1112-21, 2000 (PubMed ID: 10825351)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex8-9del (breakpoints not mapped))

ID: 228

Kobayashi T, Wang M, Hattori N, Matsumine H, Kondo T, Mizuno Y. Exonic deletion mutations of the Parkin gene among sporadic patients with Parkinson's disease. Parkinsonism Relat Disord 6: 129-131, 2000 (PubMed ID: 10817951)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-5del (breakpoints not mapped))

ID: 207

Lu CS, Wu JC, Tsai CH, Chen RS, Chou YH, Hattori N, Yoshino H, Mizuno Y. Clinical and genetic studies on familial parkinsonism: the first report on a parkin gene mutation in a Taiwanese family. Mov Disord 16: 164-6, 2001 (PubMed ID: 11215581)

Mutations

PARK2: (ex3del (breakpoints not mapped))

ID: 229

van de Warrenburg BP, Lammens M, Lücking CB, Denèfle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink MW. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56: 555-7, 2001 (PubMed ID: 11222808)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (Lys211Asn)

ID: 227

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10: 1649-56, 2001 (PubMed ID: 11487568)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex4dup (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (Ala82Glu) (Val324fs) (Lys349fs)

ID: 213

Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58: 1239-46, 2002 (PubMed ID: 11971093)

Mutations

PARK2: (ex1del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (c.-21G>T) (Gln34fs) (Arg42Pro) (Asn52fs) (Pro113fs / ex3 Δ40bp) (Met192Leu) (Arg256Cys) (Leu261) (Arg275Trp) (Gly430Asp) (Pro437Leu)

ID: 230

Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes JG. Molecular findings in familial Parkinson disease in Spain. Arch Neurol 59: 966-70, 2002 (PubMed ID: 12056932)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex8-9del (breakpoints not mapped)) (Asn52fs) (Val56Glu) (Cys212Tyr)

ID: 223

Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T. Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families. J Med Genet 39: 489-92, 2002 (PubMed ID: 12114481)

Mutations

PARK2: (ex2-3dup (breakpoints not mapped)) (ex2-4del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4-6del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (ex8dup (breakpoints not mapped)) (ex8-9del (breakpoints not mapped)) (Asn52fs) (Pro113fs / ex3 Δ40bp) (Lys211Asn) (Arg275Trp) (Pro437Leu)

ID: 235

Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, Lincoln S. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord 17: 670-5, 2002 (PubMed ID: 12210855)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex4del (breakpoints not mapped))

ID: 306

Kobayashi T, Matsumine H, Zhang J, Imamichi Y, Mizuno Y, Hattori N. Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutations. J Neurol Sci 207: 11-7, 2003 (PubMed ID: 12614925)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex5del (breakpoints not mapped))

ID: 241

Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126: 1271-8, 2003 (PubMed ID: 12764050)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-3dup (breakpoints not mapped)) (ex2-4del (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-4dup (breakpoints not mapped)) (ex3-5del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (ex10del (breakpoints not mapped)) (Thr240Met) (Arg256Cys) (Arg275Trp) (Ala398Thr)

ID: 243

Illarioshkin SN, Periquet M, Rawal N, Lücking CB, Zagorovskaya TB, Slominsky PA, Miloserdova OV, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, Brice A. Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism. Mov Disord 18: 914-9, 2003 (PubMed ID: 12889082)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex4-5del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (IVS1+1G>A) (Gln34fs)

ID: 239

Poorkaj P, Nutt JG, James D, Gancher S, Bird TD, Steinbart E, Schellenberg GD, Payami H. parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. Am J Med Genet A 129A: 44-50, 2004 (PubMed ID: 15266615)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (ex9dup (breakpoints not mapped)) (Pro113fs / ex3 Δ40bp) (Arg402Cys) (Pro437Leu)

ID: 250

Sasaki S, Shirata A, Yamane K, Iwata M. Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions. Neurology 63: 678-82, 2004 (PubMed ID: 15326242)

Mutations

PARK2: (ex3del (breakpoints not mapped))

ID: 304

Wang T, Liang ZH, Sun SG, Cao XB, Peng H, Liu HJ, Tong ET.. Systematic examination of DNA variants in the parkin gene in patients with Parkinson's disease. Chin Med J 117: 1567-9, 2004 (PubMed ID: 15498385)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gly284Arg)

ID: 414

Capecci M, Passamonti L, Annesi F, Annesi G, Bellesi M, Candiano IC, Ricciuti R, Iacoangeli M, Scerrati M, Zappia M, Tarantino P, De Marco EV, Civitelli D, Carrideo S, Provinciali L, Ceravolo MG, Quattrone A. Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene. Mov Disord 19: 1450-2, 2004 (PubMed ID: 15390056)

Mutations

PARK2: (ex3del (breakpoints not mapped))

ID: 293

Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappatà S, Barone P. Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease. Neurology 63: 2097-103, 2004 (PubMed ID: 15596756)

Mutations

PARK2: (ex3del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (c.-6G>C) (Ala82Glu) (Arg104Trp) (Ser145Asn) (Arg402Cys)

ID: 305

Poorkaj P, Moses L, Montimurro JS, Nutt JG, Schellenberg GD, Payami H. Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism. BMC Neurol 5: , 2005 (PubMed ID: 15725358)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (Pro113fs / ex3 Δ40bp)

ID: 389

Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network. Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord 20: 424-31, 2005 (PubMed ID: 15584030)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex5-6del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6-7del (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (ex8-10del (breakpoints not mapped)) (Arg42Pro) (Arg402Cys) (Thr415Asn) (Cys418Arg) (IVS11-3C>G)

ID: 252

Shyu WC, Lin SZ, Chiang MF, Pang CY, Chen SY, Hsin YL, Thajeb P, Lee YJ, Li. Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study. Parkinsonism Relat Disord 11: 173-80, 2005 (PubMed ID: 15823482)

Mutations

PARK2: (ex1del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (ex10-12del (breakpoints not mapped)) (Cys212Gly) (Arg256Cys) (Val258Met) (Gln311His) (Gly430Asp) (Cys441Arg)

ID: 258

De Rosa A, Volpe G, Marcantonio L, Santoro L, Brice A, Filla A, Perretti A, De Michele G. Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.. J Neurol 253: 275-9, 2006 (PubMed ID: 16502212)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex2-4del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped))

ID: 297

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 63: 826-32, 2006 (PubMed ID: 16769863)

Mutations

PARK2: (ex1dup (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex2-4del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex6-8dup (breakpoints not mapped)) (ex7-8del (breakpoints not mapped)) (ex9dup (breakpoints not mapped)) (ex12dup (breakpoints not mapped)) (Asn52fs) (Pro113fs / ex3 Δ40bp) (Cys253Tyr) (Arg275Trp) (Arg402Cys) (Gly430Asp) (Pro437Leu)

ID: 296

Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Arch Neurol 63: 1170-4, 2006 (PubMed ID: 16908747)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (ex11dup (breakpoints not mapped))

ID: 262

Shadrina MI, Semenova EV, Slominsky PA, Bagyeva GH, Illarioshkin SN, Ivanova-Smolenskaia II, Limborska SA. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Med Genet 8: , 2007 (PubMed ID: 17324265)

Mutations

PARK2: (ex2-4del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-5del (breakpoints not mapped)) (ex3-7del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5dup (breakpoints not mapped))

ID: 270

Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements. Mov Disord 22: 2274-8, 2007 (PubMed ID: 17914726)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex5-6del (breakpoints not mapped))

ID: 269

Lesage S, Lohmann E, Tison F, Durif F, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet 45: 43-6, 2008 (PubMed ID: 17766365)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-4dup (breakpoints not mapped)) (ex3-5del (breakpoints not mapped)) (ex3-6del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex4-7del (breakpoints not mapped)) (Gln34fs) (Asn52fs) (Ala82Glu) (Arg256Cys) (Asn273Ser) (Arg275Trp) (Cys289Gly) (Ile298Ser) (Gly328Glu)

ID: 275

Chung SJ, Park HK, Ki CS, Kim MJ, Lee MC. Marked diurnal fluctuation and rest benefit in a patient with parkin mutation. Mov Disord 23: 624-6, 2008 (PubMed ID: 18228570)

Mutations

PARK2: (ex1-4del (breakpoints not mapped)) (ex3del (breakpoints not mapped))

ID: 298

Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology 70: 1186-91, 2008 (PubMed ID: 18378882)

Mutations

PARK2: (ex2-5del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (ex5-12del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex7-9del (breakpoints not mapped)) (ex8dup (breakpoints not mapped)) (Gln34fs) (Arg256Cys) (Arg348fs) (Arg402Cys)

ID: 354

Aguiar P de C, Lessa PS, Godeiro C Jr, Barsottini O, Felício AC, Borges V, Silva SM, Saba RA, Ferraz HB, Moreira-Filho CA, Andrade LA. Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients. Mov Disord 23: 1228-33, 2008 (PubMed ID: 18464276)

Mutations

LRRK2: (Gly2019Ser)
PARK2: (ex1del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex11del (breakpoints not mapped)) (Asp53Stop) (Lys211Asn) (IVS11-3C>G)

ID: 143

Guo JF, Xiao B, Liao B, Zhang XW, Nie LL, Zhang YH, Shen L, Jiang H, Xia K, Pan Q, Yan XX, Tang BS. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Mov Disord 23: 2074-9, 2008 (PubMed ID: 18785233)

Mutations

PARK2: (ex1del (breakpoints not mapped)) (ex2del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gln34fs) (Cys253Phe) (Cys323fs) (Cys441Arg)
PINK1: (Thr313Met) (Arg492Stop)
PARK7: (Leu10Pro)

ID: 273

Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, Brambilla T, Antonini A, Tesei S, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Garavaglia B, Ghezzi D, Travi M, Decarli A, Coviello DA, Pezzoli G, Goldwurm S. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 14: 326-33, 2008 (PubMed ID: 18519021)

Mutations

PARK2: (ex2dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-5del (breakpoints not mapped)) (ex5-6del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6-7del (breakpoints not mapped)) (Arg42Pro) (Ala82Glu) (Met192Leu) (Cys212fs) (Ala230Thr) (Cys238Trp) (Thr240Met) (Cys253Tyr) (Arg275Trp) (Leu307) (Arg402Cys) (Glu409Stop) (*94A>G) (*94_95delinsGCGC)

ID: 278

Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group.. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 72: 110-6, 2009 (PubMed ID: 18987353)

Mutations

PARK2: (prom+ex1del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-6del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (ex8-9del (breakpoints not mapped)) (Gln34fs) (Asn52fs) (Arg275Trp) (Cys441Arg)

ID: 411

Macedo MG, Verbaan D, Fang Y, van Rooden SM, Visser M, Anar B, Uras A, Groen JL, Rizzu P, van Hilten JJ, Heutink P. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord 24: 196-203, 2009 (PubMed ID: 18973254)

Mutations

LRRK2: (Ser1228Thr)
PARK2: (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex10-12dup (breakpoints not mapped)) (Arg33Gln) (Arg42Pro) (Arg275Trp) (His279) (Leu283Pro) (Arg402Cys)
PINK1: (Met237Val) (Arg492Stop)
PARK7: (ex1-5dup (breakpoints not mapped)) (Pro158del) (Ala179Thr)

ID: 192

Barsottini OG, Felício AC, Aguiar Pde C, Godeiro-Junior C, Shih MC, Hoexter MQ, Bressan RA, Ferraz HB, Andrade LA. Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes. Arq Neuropsiquiatr 67: 7-11, 2009 (PubMed ID: 19330201)

Mutations

LRRK2: (Gly2019Ser)
PARK2: (ex1del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex11del (breakpoints not mapped)) (Asp53Stop) (Lys211Asn) (IVS11-3C>G)

ID: 188

Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 15: 425-9, 2009 (PubMed ID: 19162522)

Mutations

PARK2: (ex2dup (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (c.-39G>T) (c.-21G>T) (Gln34fs) (Leu261) (Arg275Trp) (Leu307) (Val324fs) (Arg402Cys) (Gly429Glu) (Met458Leu)

ID: 280

Keyser RJ, Lombard D, Veikondis R, Carr J, Bardien S. Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics Epub: , 2009 (PubMed ID: 20013014)

Mutations

SNCA: (tripSNCA [K])
PARK2: (ex2dup (breakpoints not mapped)) (ex2-3dup (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex9del (breakpoints not mapped))
PINK1: (Tyr258Stop)

ID: 392

Guo JF, Zhang XW, Nie LL, Zhang HN, Liao B, Li J, Wang L, Yan XX, Tang BS.. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol Epub: , 2010 (PubMed ID: 20146068)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2dup (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex3del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex11del (breakpoints not mapped)) (Gln34fs) (Cys238fs)
PINK1: (ex3-8del (breakpoints not mapped)) (Leu278Val) (Arg407Gln)
PARK7: (ex2del (breakpoints not mapped))

ID: 402