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

Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51: 621-5, 2002 (PubMed ID: 12112109)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2trip (breakpoints not mapped)) (ex2-5del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex4-5del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex9dup (breakpoints not mapped)) (Pro37Leu) (Lys211Asn) (Arg275Trp) (Thr351Pro)

ID: 224

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

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

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

Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M. Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 62: 82-7, 2005 (PubMed ID: 15642853)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (Gly284Arg) (Arg396Gly)

ID: 259

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

Chaudhary S, Behari M, Dihana M, Swaminath PV, Govindappa ST, Jayaram S, Goyal V, Maitra A, Muthane UB, Juyal RC, Thelma BK. Parkin mutations in familial and sporadic Parkinson's disease among Indians. Parkinsonism Relat Disord 12: 239-45, 2006 (PubMed ID: 16500134)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2dup (breakpoints not mapped)) (ex4dup (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (ex7del (breakpoints not mapped)) (ex8del (breakpoints not mapped)) (Ala31Asp) (Gln34Arg) (Arg42Cys) (Arg104Trp) (Leu272) (Arg334Cys) (Ala339) (Gly359Asp) (Arg402Cys)

ID: 387

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

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

Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol 8: , 2008 (PubMed ID: 18211709)

Mutations

LRRK2: (Gly2019Ser)
PARK2: (ex2del (breakpoints not mapped)) (ex5dup (breakpoints not mapped)) (ex8dup (breakpoints not mapped)) (ex8-11del (breakpoints not mapped)) (ex9dup (breakpoints not mapped)) (Asn52fs) (Thr240Met) (Glu395Stop)

ID: 139

Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 29: 315-22, 2008 (PubMed ID: 17994548)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2dup (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4dup (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex7dup (breakpoints not mapped))

ID: 277

Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K. Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 65: 467-74, 2008 (PubMed ID: 18413468)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (c.-21G>T) (Asp18Asn) (Arg42Pro) (Pro113fs / ex3 Δ40bp) (Pro153Arg) (Met192Leu) (Cys253Tyr) (Arg275Trp) (Asp280Asn) (Ile298Leu) (Gly319) (Arg366Gln)

ID: 286

Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW, Chung SJ, Kim JS, Shin HW, Lyoo CH, Lee PH, Baik JS, Kim SJ, Park MY, Sohn YH, Kim JH, Kim JW, Lee MS, Lee MC, Kim DH, Kim YJ. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 9: 263-9, 2008 (PubMed ID: 18704525)

Mutations

SNCA: (Ala53Thr)
LRRK2: (Gly2385Arg)
PARK2: (ex2del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (Gln40Stop)
PINK1: (Gly32Arg) (Arg279His) (Asn367Ser) (Phe385Leu) (Lys520fs)

ID: 8

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

Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Mov Disord 24: 138-40, 2009 (PubMed ID: 18942080)

Mutations

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

ID: 282

Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 73: 279-86, 2009 (PubMed ID: 19636047)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2dup (breakpoints not mapped)) (ex2-3del (breakpoints not mapped)) (ex2-4dup (breakpoints not mapped)) (ex2-4trip (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex3-6del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex4dup (breakpoints not mapped)) (ex4-5del (breakpoints not mapped)) (ex4-6del (breakpoints not mapped)) (ex5del (breakpoints not mapped)) (ex5-6del (breakpoints not mapped)) (ex5-8dup (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex8-9del (breakpoints not mapped)) (Arg33Gln) (Gln34fs) (Asn52fs) (Glu79Stop) (Ala82Glu) (Thr83Ala) (Pro113fs / ex3 Δ40bp) (Thr173Met) (IVS4-9T>A) (Met192Val) (Lys211Asn) (Thr240Met) (Arg256Cys) (Arg275Trp) (Glu310Asp) (IVS9+1delG) (IVS9+5G>T) (Gly430Asp) (Pro437Leu)

ID: 412

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