Mendelian forms of Parkinson's disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 7, 2009, Pages 587-596

  Gasser, Thomas ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

DJ 1; LRRK2; Monogenic; Parkin; Parkinson's disease; PINK1; Synuclein

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; GENE PRODUCT; LEUCINE RICH REPEAT KINASE 2; PARKIN; PROTEIN ATP13A2; PROTEIN PINK1; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; CARBOXY TERMINAL SEQUENCE; DISEASE COURSE; DISEASE SEVERITY; DOPAMINERGIC NERVE CELL; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE LOCUS; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEWY BODY; MISSENSE MUTATION; MOLECULAR GENETICS; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NONHUMAN; ONSET AGE; PARKINSON DISEASE; PATHOGENESIS; POINT MUTATION; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; REVIEW; SUBSTANTIA NIGRA; WILD TYPE;

EID: 68649110032     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.12.007     Document Type: Review

References (154)

1. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., and Nussbaum R.L. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
2. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., and Shimizu Y. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392 (1998) 605-608
3. Gasser T., Müller-Myhsok B., Wszolek Z.K., Oehlmann R., Calne D.B., Bonifati V., Bereznai B., Fabrizio E., Vieregge P., and Horstmann R. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet. 18 (1998) 262-265
4. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., Lincoln S., Crawley A., Hanson M., Maraganore D., Adler C., Cookson M.R., Muenter M., Baptista M., Miller D., Blancato J., Hardy J., and Gwinn-Hardy K. {alpha}-Synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
5. Leroy E., Boyer R., Auburger G., Leube B., Ulm G., Mezey E., Harta G., Brownstein M.J., Jonnalagada S., Chernova T., Dehejia A., Lavedan C., Gasser T., Steinbach P.J., Wilkinson K.D., and Polymeropoulos M.H. The ubiquitin pathway in Parkinson's disease [letter]. Nature 395 (1998) 451-452
6. Valente E.M., Abou-Sleiman P.M., Caputo V., Muqit M.M., Harvey K., Gispert S., Ali Z., Del Turco D., Bentivoglio A.R., Healy D.G., Albanese A., Nussbaum R., Gonzalez-Maldonado R., Deller T., Salvi S., Cortelli P., Gilks W.P., Latchman D.S., Harvey R.J., Dallapiccola B., Auburger G., and Wood N.W. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 1158-1160
7. Bonifati V., Rizzu P., Van Baren M.J., Schaap O., Breedveld G.J., Krieger E., Dekker M.C., Squitieri F., Ibanez P., Joosse M., Van Dongen J.W., Vanacore N., van Swieten J.C., Brice A., Meco G., van Duijn C.M., Oostra B.A., and Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299 (2002) 256-259
8. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R.J., Calne D.B., Stoessl A.J., Pfeiffer R.F., Patenge N., Carbajal I.C., Vieregge P., Asmus F., Muller-Myhsok B., Dickson D.W., Meitinger T., Strom T.M., Wszolek Z.K., and Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
9. Paisan-Ruiz C., Jain S., Evans E.W., Gilks W.P., Simon J., van der Brug M., de Munain A.L., Aparicio S., Gil A.M., Khan N., Johnson J., Martinez J.R., Nicholl D., Carrera I.M., Pena A.S., de Silva R., Lees A., Marti-Masso J.F., Perez-Tur J., Wood N.W., and Singleton A.B. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004) 595-600
10. Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L.P., Goebel I., Mubaidin A.F., Wriekat A.L., Roeper J., Al-Din A., Hillmer A.M., Karsak M., Liss B., Woods C.G., Behrens M.I., and Kubisch C. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38 (2006) 1184-1191
11. Lautier C., Goldwurm S., Durr A., Giovannone B., Tsiaras W.G., Pezzoli G., Brice A., and Smith R.J. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am. J. Hum. Genet. 82 4 (2008) 822-833
12. Strauss K.M., Martins L.M., Plun-Favreau H., Marx F.P., Kautzmann S., Berg D., Gasser T., Wszolek Z., Muller T., Bornemann A., Wolburg H., Downward J., Riess O., Schulz J.B., and Kruger R. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum. Mol. Genet. 14 (2005) 2099-2111
13. Fuchs J., Nilsson C., Kachergus J., Munz M., Larsson E.M., Schule B., Langston J.W., Middleton F.A., Ross O.A., Hulihan M., Gasser T., and Farrer M.J. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 68 (2007) 916-922
14. Mjönes H. Paralysis agitans. A clinical genetic study. Acta Psychiatr. Neurol. Scand. 54 (1949) 1-195
15. Duvoisin R.C. Genetics of Parkinson's disease. Adv. Neurol. 45 (1987) 307-312
16. Golbe L.I., Miller D.C., and Duvoisin R.C. Autosomal dominant Lewy-body Parkinson's disease. Adv. Neurol. 53 (1990) 287-292
17. Golbe L.I., Lazzarini A.M., Schwarz K.O., Mark M.H., Dickson D.W., and Duvoisin R.C. Autosomal dominant parkinsonism with benign course and typical Lewy-body pathology. Neurology 43 (1993) 2222-2227
18. Wszolek Z.K., Cordes M., Calne D.B., Munter M.D., Cordes I., and Pfeifer R.F. Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance. Nervenarzt 64 (1993) 331-335
19. Burn D.J., Mark M.H., Playford E.D., Maraganore D.M., Zimmerman Jr. T.R., Duvoisin R.C., Harding A.E., Marsden C.D., and Brooks D.J. Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurology 42 (1992) 1894-1900
20. Duvoisin R.C., and Johnson W.G. Hereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease. Brain Pathol. 2 (1992) 309-320
21. Polymeropoulos M.H., Higgins J.J., Golbe L.I., Johnson W.G., Ide S.E., Di Iorio G., Sanges G., Stenroos E.S., Pho L.T., Schaffer A.A., Lazzarini A.M., Nussbaum R.L., and Duvoisin R. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274 (1996) 1197-1199
22. Markopoulou K., Wszolek Z.K., Pfeiffer R.F., and Chase B.A. Reduced expression of the G209A alpha-synuclein allele in familial Parkinsonism. Ann. Neurol. 46 (1999) 374-381
23. Spira P.J., Sharpe D.M., Halliday G., Cavanagh J., and Nicholson G.A. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann. Neurol. 49 (2001) 313-319
24. Ki C.S., Stavrou E., Davanos N., Lee W., Chung E., Kim J.Y., and Athanassiadou A. The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. Clin. Genet. 71 (2007) 471-473
25. Krüger R., Kuhn W., Müller T., Woitalla D., Graeber M., Kösel S., Przuntek H., Epplen J.T., Schöls L., and Riess O. Ala30Pro mutation in the gene encoding a-synuclein in Parkinson's disease. Nat. Genet. 18 (1998) 106-108
26. Zarranz J.J., Alegre J., Gomez-Esteban J.C., Lezcano E., Ros R., Ampuero I., Vidal L., Hoenicka J., Rodriguez O., Atares B., Llorens V., Gomez Tortosa E., del Ser T., Munoz D.G., and de Yebenes J.G. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann. Neurol. 55 (2004) 164-173
27. Berg D., Niwar M., Maass S., Zimprich A., Moller J.C., Wuellner U., Schmitz-Hubsch T., Klein C., Tan E.K., Schols L., Marsh L., Dawson T.M., Janetzky B., Muller T., Woitalla D., Kostic V., Pramstaller P.P., Oertel W.H., Bauer P., Krueger R., Gasser T., and Riess O. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov. Disord. 20 (2005) 1191-1194
28. Papapetropoulos S., Ellul J., Paschalis C., Athanassiadou A., Papadimitriou A., and Papapetropoulos T. Clinical characteristics of the alpha-synuclein mutation (G209A)-associated Parkinson's disease in comparison with other forms of familial Parkinson's disease in Greece. Eur. J. Neurol. 10 (2003) 281-286
29. Duda J.E., Giasson B.I., Mabon M.E., Miller D.C., Golbe L.I., Lee V.M., and Trojanowski J.Q. Concurrence of alpha-synuclein and tau brain pathology in the Contursi kindred. Acta Neuropathol. (Berl) 104 (2002) 7-11
30. Ibanez P., Bonnet A.M., Debarges B., Lohmann E., Tison F., Pollak P., Agid Y., Durr A., and Brice A. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364 (2004) 1169-1171
31. Miller D.W., Hague S.M., Clarimon J., Baptista M., Gwinn-Hardy K., Cookson M.R., and Singleton A.B. Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62 (2004) 1835-1838
32. Chartier-Harlin M.C., Kachergus J., Roumier C., Mouroux V., Douay X., Lincoln S., Levecque C., Larvor L., Andrieux J., Hulihan M., Waucquier N., Defebvre L., Amouyel P., Farrer M., and Destee A. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364 (2004) 1167-1169
33. Ahn T.B., Kim S.Y., Kim J.Y., Park S.S., Lee D.S., Min H.J., Kim Y.K., Kim S.E., Kim J.M., Kim H.J., Cho J., and Jeon B.S. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 70 (2008) 43-49
34. Hofer A., Berg D., Asmus F., Niwar M., Ransmayr G., Riemenschneider M., Bonelli S.B., Steffelbauer M., Ceballos-Baumann A., Haussermann P., Behnke S., Kruger R., Prestel J., Sharma M., Zimprich A., Riess O., and Gasser T. The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies. J. Neural Transm. 112 (2005) 1249-1254
35. Gispert S., Trenkwalder C., Mota-Vieira L., Kostic V., and Auburger G. Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease. Arch. Neurol. 62 (2005) 96-98
36. Maraganore D.M., de Andrade M., Elbaz A., Farrer M.J., Ioannidis J.P., Kruger R., Rocca W.A., Schneider N.K., Lesnick T.G., Lincoln S.J., Hulihan M.M., Aasly J.O., Ashizawa T., Chartier-Harlin M.C., Checkoway H., Ferrarese C., Hadjigeorgiou G., Hattori N., Kawakami H., Lambert J.C., Lynch T., Mellick G.D., Papapetropoulos S., Parsian A., Quattrone A., Riess O., Tan E.K., and Van Broeckhoven C. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296 (2006) 661-670
37. Mueller J.C., Fuchs J., Hofer A., Zimprich A., Lichtner P., Illig T., Berg D., Wullner U., Meitinger T., and Gasser T. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann. Neurol. 57 (2005) 535-541
38. Farrer M., Maraganore D.M., Lockhart P., Singleton A., Lesnick T.G., de Andrade M., West A., de Silva R., Hardy J., and Hernandez D. alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Hum. Mol. Genet. 10 (2001) 1847-1851
39. Pals P., Lincoln S., Manning J., Heckman M., Skipper L., Hulihan M., Van den Broeck M., De Pooter T., Cras P., Crook J., Van Broeckhoven C., and Farrer M.J. alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann. Neurol. 56 (2004) 591-595
40. Mizuta I., Satake W., Nakabayashi Y., Ito C., Suzuki S., Momose Y., Nagai Y., Oka A., Inoko H., Fukae J., Saito Y., Sawabe M., Murayama S., Yamamoto M., Hattori N., Murata M., and Toda T. Multiple candidate gene analysis identifies {alpha}-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum. Mol. Genet. 15 (2006) 1151-1158
41. Goris A., Williams-Gray C.H., Clark G.R., Foltynie T., Lewis S.J., Brown J., Ban M., Spillantini M.G., Compston A., Burn D.J., Chinnery P.F., Barker R.A., and Sawcer S.J. Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann. Neurol. 62 (2007) 145-153
42. Winkler S., Hagenah J., Lincoln S., Heckman M., Haugarvoll K., Lohmann-Hedrich K., Kostic V., Farrer M., and Klein C. alpha-Synuclein and Parkinson disease susceptibility. Neurology 69 (2007) 1745-1750
43. Chiba-Falek O., Kowalak J.A., Smulson M.E., and Nussbaum R.L. Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am. J. Hum. Genet. 76 (2005) 478-492
44. Fuchs J., Tichopad A., Golub Y., Munz M., Schweitzer K.J., Wolf B., Berg D., Mueller J.C., and Gasser T. Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J. 22 (2008) 1327-1334
45. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., and Goedert M. Alpha-synuclein in Lewy bodies. Nature 388 (1997) 839-840
46. Goedert M., Spillantini M.G., and Davies S.W. Filamentous nerve cell inclusions in neurodegenerative diseases. Curr. Opin. Neurobiol. 8 (1998) 619-632
47. Goldberg M.S., and Lansbury Jr. P.T. Is there a cause-and-effect relationship between alpha-synuclein fibrillization and Parkinson's disease?. Nat. Cell Biol. 2 (2000) E115-E119
48. McNaught K.S., Olanow C.W., Halliwell B., Isacson O., and Jenner P. Failure of the ubiquitin-proteasome system in Parkinson's disease. Nat. Rev., Neurosci. 2 (2001) 589-594
49. Cuervo A.M., Stefanis L., Fredenburg R., Lansbury P.T., and Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 305 (2004) 1292-1295
50. Funayama M., Hasegawa K., Kowa H., Saito M., Tsuji S., and Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann. Neurol. 51 (2002) 296-301
51. Zimprich A., Muller-Myhsok B., Farrer M., Leitner P., Sharma M., Hulihan M., Lockhart P., Strongosky A., Kachergus J., Calne D.B., Stoessl J., Uitti R.J., Pfeiffer R.F., Trenkwalder C., Homann N., Ott E., Wenzel K., Asmus F., Hardy J., Wszolek Z., and Gasser T. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am. J. Hum. Genet. 74 (2004) 11-19
52. Di Fonzo A., Tassorelli C., De Mari M., Chien H.F., Ferreira J., Rohe C.F., Riboldazzi G., Antonini A., Albani G., Mauro A., Marconi R., Abbruzzese G., Lopiano L., Fincati E., Guidi M., Marini P., Stocchi F., Onofrj M., Toni V., Tinazzi M., Fabbrini G., Lamberti P., Vanacore N., Meco G., Leitner P., Uitti R.J., Wszolek Z.K., Gasser T., Simons E.J., Breedveld G.J., Goldwurm S., Pezzoli G., Sampaio C., Barbosa E., Martignoni E., Oostra B.A., Bonifati V., Lu C.S., Wu-Chou Y.H., Fonzo A.D., Chang H.C., Chen R.S., Weng Y.H., and Hattori N. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. Eur. J. Hum. Genet. 11 (2005) 521-522
53. Berg D., Schweitzer K., Leitner P., Zimprich A., Lichtner P., Belcredi P., Brussel T., Schulte C., Maass S., Nagele T., Wszolek E.K., and Gasser T. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*. Brain 128 (2005) 3000-3011
54. Nichols W.C., Pankratz N., Hernandez D., Paisan-Ruiz C., Jain S., Halter C.A., Michaels V.E., Reed T., Rudolph A., Shults C.W., Singleton A., and Foroud T. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365 (2005) 410-412
55. Di Fonzo A., Rohe C.F., Ferreira J., Chien H.F., Vacca L., Stocchi F., Guedes L., Fabrizio E., Manfredi M., Vanacore N., Goldwurm S., Breedveld G., Sampaio C., Meco G., Barbosa E., Oostra B.A., and Bonifati V. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365 (2005) 412-415
56. Kachergus J., Mata I.F., Hulihan M., Taylor J.P., Lincoln S., Aasly J., Gibson J.M., Ross O.A., Lynch T., Wiley J., Payami H., Nutt J., Maraganore D.M., Czyzewski K., Styczynska M., Wszolek Z.K., Farrer M.J., and Toft M. Identification of a novel LRRK2 Mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am. J. Hum. Genet. 76 (2005) 672-680
57. Gilks W.P., Abou-Sleiman P.M., Gandhi S., Jain S., Singleton A., Lees A.J., Shaw K., Bhatia K.P., Bonifati V., Quinn N.P., Lynch J., Healy D.G., Holton J.L., Revesz T., and Wood N.W. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365 (2005) 415-416
58. Zabetian C.P., Hutter C.M., Yearout D., Lopez A.N., Factor S.A., Griffith A., Leis B.C., Bird T.D., Nutt J.G., Higgins D.S., Roberts J.W., Kay D.M., Edwards K.L., Samii A., and Payami H. LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. Am. J. Hum. Genet. 79 (2006) 752-758
59. Ozelius L.J., Senthil G., Saunders-Pullman R., Ohmann E., Deligtisch A., Tagliati M., Hunt A.L., Klein C., Henick B., Hailpern S.M., Lipton R.B., Soto-Valencia J., Risch N., and Bressman S.B. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 354 (2006) 424-425
60. Lesage S., Durr A., Tazir M., Lohmann E., Leutenegger A.L., Janin S., Pollak P., and Brice A. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N. Engl. J. Med. 354 (2006) 422-423
61. Goldwurm S., Zini M., Mariani L., Tesei S., Miceli R., Sironi F., Clementi M., Bonifati V., and Pezzoli G. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology 68 (2007) 1141-1143
62. Mata I.F., Taylor J.P., Kachergus J., Hulihan M., Huerta C., Lahoz C., Blazquez M., Guisasola L.M., Salvador C., Ribacoba R., Martinez C., Farrer M., and Alvarez V. LRRK2 R1441G in Spanish patients with Parkinson's disease. Neurosci. Lett. 382 (2005) 309-311
63. Healy D.G., Falchi M., O'Sullivan S.S., Bonifati V., Durr A., Bressman S., Brice A., Aasly J., Zabetian C.P., Goldwurm S., Ferreira J.J., Tolosa E., Kay D.M., Klein C., Williams D.R., Marras C., Lang A.E., Wszolek Z.K., Berciano J., Schapira A.H., Lynch T., Bhatia K.P., Gasser T., Lees A.J., and Wood N.W. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 7 7 (2008) 583-590
64. Dachsel J.C., Mata I.F., Ross O.A., Taylor J.P., Lincoln S.J., Hinkle K.M., Huerta C., Ribacoba R., Blazquez M., Alvarez V., and Farrer M.J. Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. Neurosci. Lett. 410 (2006) 80-84
65. Biskup S., Mueller J.C., Sharma M., Lichtner P., Zimprich A., Berg D., Wullner U., Illig T., Meitinger T., and Gasser T. Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Ann. Neurol. 58 (2005) 905-908
66. Paisan-Ruiz C., Evans E.W., Jain S., Xiromerisiou G., Gibbs J.R., Eerola J., Gourbali V., Hellstrom O., Duckworth J., Papadimitriou A., Tienari P.J., Hadjigeorgiou G.M., and Singleton A.B. Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium. J. Med. Genet. 43 (2006) e9
67. Skipper L., Li Y., Bonnard C., Pavanni R., Yih Y., Chua E., Sung W.K., Tan L., Wong M.C., Tan E.K., and Liu J. Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease. Hum. Mol. Genet. 14 (2005) 3549-3556
68. Di Fonzo A., Wu-Chou Y.H., Lu C.S., van Doeselaar M., Simons E.J., Rohe C.F., Chang H.C., Chen R.S., Weng Y.H., Vanacore N., Breedveld G.J., Oostra B.A., and Bonifati V. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 7 (2006) 133-138
69. Tan E.K., Zhao Y., Skipper L., Tan M.G., Di Fonzo A., Sun L., Fook-Chong S., Tang S., Chua E., Yuen Y., Tan L., Pavanni R., Wong M.C., Kolatkar P., Lu C.S., Bonifati V., and Liu J.J. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Hum. Genet. 120 (2007) 857-863
70. Funayama M., Li Y., Tomiyama H., Yoshino H., Imamichi Y., Yamamoto M., Murata M., Toda T., Mizuno Y., and Hattori N. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18 (2007) 273-275
71. Farrer M.J., Stone J.T., Lin C.H., Dachsel J.C., Hulihan M.M., Haugarvoll K., Ross O.A., and Wu R.M. Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. Parkinsonism Relat. Disord. 13 (2007) 89-92
72. Lu C.S., Wu-Chou Y.H., van Doeselaar M., Simons E.J., Chang H.C., Breedveld G.J., Di Fonzo A., Chen R.S., Weng Y.H., Lai S.C., Oostra B.A., and Bonifati V. The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population. Neurogenetics 9 4 (2008) 271-276
73. Ross O.A., Wu Y.R., Lee M.C., Funayama M., Chen M.L., Soto A.I., Mata I.F., Lee-Chen G.J., Chen C.M., Tang M., Zhao Y., Hattori N., Farrer M.J., Tan E.K., and Wu R.M. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann. Neurol. 64 (2008) 88-92
74. Bosgraaf L., and Van Haastert P.J. Roc, a Ras/GTPase domain in complex proteins. Biochim. Biophys. Acta 1643 (2003) 5-10
75. Gloeckner C.J., Kinkl N., Schumacher A., Braun R.J., O'Neill E., Meitinger T., Kolch W., Prokisch H., and Ueffing M. The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Hum. Mol. Genet. 15 (2006) 223-232
76. Smith W.W., Pei Z., Jiang H., Moore D.J., Liang Y., West A.B., Dawson V.L., Dawson T.M., and Ross C.A. Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 18676-18681
77. West A.B., Moore D.J., Choi C., Andrabi S.A., Li X., Dikeman D., Biskup S., Zhang Z., Lim K.L., Dawson V.L., and Dawson T.M. Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. Hum. Mol. Genet. 16 (2007) 223-232
78. Greggio E., Jain S., Kingsbury A., Bandopadhyay R., Lewis P., Kaganovich A., van der Brug M.P., Beilina A., Blackinton J., Thomas K.J., Ahmad R., Miller D.W., Kesavapany S., Singleton A., Lees A., Harvey R.J., Harvey K., and Cookson M.R. Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol. Dis. 23 (2006) 329-341
79. Ross O.A., Toft M., Whittle A.J., Johnson J.L., Papapetropoulos S., Mash D.C., Litvan I., Gordon M.F., Wszolek Z.K., Farrer M.J., and Dickson D.W. Lrrk2 and Lewy body disease. Ann. Neurol. 59 (2006) 388-393
80. Hasegawa K., Stoessl A.J., Yokoyama T., Kowa H., Wszolek Z.K., and Yagishita S. Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes. Parkinsonism Relat. Disord. (2008) Electronic publication ahead of print.
81. Ishikawa A., and Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 47 (1996) 160-166
82. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8 (1994) 236-242
83. Matsumine H., Saito M., Shimoda-Matsubayashi S., Tanaka H., Ishikawa A., Nakagawa-Hattori Y., Yokochi M., Kobayashi T., Igarashi S., Takano H., Sanpei K., Koike R., Mori H., Kondo T., Mizutani Y., Schaffer A.A., Yamamura Y., Nakamura S., Kuzuhara S., Tsuji S., and Mizuno Y. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am. J. Hum. Genet. 60 (1997) 588-596
84. Tassin J., Durr A., de Broucker T., Abbas N., Bonifati V., De Michele G., Bonnet A.M., Broussolle E., Pollak P., Vidailhet M., De Mari M., Marconi R., Medjbeur S., Filla A., Meco G., Agid Y., and Brice A. Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am. J. Hum. Genet. 63 (1998) 88-94
85. Jones A.C., Yamamura Y., Almasy L., Bohlega S., Elibol B., Hubble J., Kuzuhara S., Uchida M., Yanagi T., Weeks D.E., and Nygaard T.G. Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. Am. J. Hum. Genet. 63 (1998) 80-87
86. 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., and 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 (1998) 935-941
87. Lücking C.B., Abbas N., Dürr A., Bonifati V., Bonnet A.M., de Broucker T., De Michele G., Wood N.W., Agid Y., and 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 (1998) 1355-1356
88. Abbas N., Lücking C.B., Ricard S., Dürr A., Bonifati V., De Michele G., Bouley S., Vaughan J.R., Gasser T., Marconi R., Broussolle E., Brefel-Courbon C., Harhangi B.S., Oostra B.A., Fabrizio E., hme G.A., Pradier L., Wood N.W., Filla A., Meco G., Denefle P., Agid Y., Brice A., and a.t.E.C.o.G.S.i.P.s. Disease. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum. Mol. Genet. 8 (1999) 567-574
89. Lücking C.B., Dürr A., Bonifati V., Vaughan J., De Michele G., Gasser T., Harhangi B.S., Pollak P., Bonnet A.M., Nichol D., DeMari M., Marconi R., Broussolle E., Rascol O., Rosier M., Arnould I., Oostr B.A., Breteler M., Filla A., Meco G., Denefle P., Wood N.W., Agid Y., and Brice A. Association between early-onset Parkinson's disease and mutations in the parkin gene. N. Engl. J. Med 342 (2000) 1560-1567
90. Lucking C.B., Bonifati V., Periquet M., Vanacore N., Brice A., and Meco G. Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology 57 (2001) 924-927
91. Klein C., Pramstaller P.P., Kis B., Page C.C., Kann M., Leung J., Woodward H., Castellan C.C., Scherer M., Vieregge P., Breakefield X.O., Kramer P.L., and Ozelius L.J. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann. Neurol. 48 (2000) 65-71
92. Lohmann E., Periquet M., Bonifati V., Wood N.W., De Michele G., Bonnet A.M., Fraix V., Broussolle E., Horstink M.W., Vidailhet M., Verpillat P., Gasser T., Nicholl D., Teive H., Raskin S., Rascol O., Destee A., Ruberg M., Gasparini F., Meco G., Agid Y., Durr A., and Brice A. How much phenotypic variation can be attributed to parkin genotype?. Ann. Neurol. 54 (2003) 176-185
93. Tassin J., Durr A., Bonnet A.M., Gil R., Vidailhet M., Lucking C.B., Goas J.Y., Durif F., Abada M., Echenne B., Motte J., Lagueny A., Lacomblez L., Jedynak P., Bartholome B., Agid Y., and Brice A. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?. Brain 123 (2000) 1112-1121
94. Yamamura Y., Hattori N., Matsumine H., Kuzuhara S., and Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev. 22 Suppl. 1 (2000) 87-91 87-91
95. Khan N.L., Graham E., Critchley P., Schrag A.E., Wood N.W., Lees A.J., Bhatia K.P., and Quinn N. Parkin disease: a phenotypic study of a large case series. Brain 126 (2003) 1279-1292
96. Inzelberg R., Hattori N., Nisipeanu P., Abo M.S., Blumen S.C., Carasso R.L., and Mizuno Y. Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation. Neurology 60 (2003) 1393-1394
97. Kuroda Y., Mitsui T., Akaike M., Azuma H., and Matsumoto T. Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J. Neurol. Neurosurg. Psychiatry 71 (2001) 231-234
98. Portman A.T., Giladi N., Leenders K.L., Maguire P., Veenma-van der Duin L., Swart J., Pruim J., Simon E.S., Hassin-Baer S., and Korczyn A.D. The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations. Neurology 56 (2001) 1759-1762
99. Leenders K.L., and Oertel W.H. Parkinson's disease: clinical signs and symptoms, neural mechanisms, positron emission tomography, and therapeutic interventions. Neural Plast 8 (2001) 99-110
100. Thobois S., Ribeiro M.J., Lohmann E., Durr A., Pollak P., Rascol O., Guillouet S., Chapoy E., Costes N., Agid Y., Remy P., Brice A., and Broussolle E. Young-onset Parkinson disease with and without parkin gene mutations: a Fluorodopa F 18 positron emission tomography study. Arch. Neurol. 60 (2003) 713-718
101. Hilker R., Klein C., Ghaemi M., Kis B., Strotmann T., Ozelius L.J., Lenz O., Vieregge P., Herholz K., Heiss W.D., and Pramstaller P.P. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann. Neurol. 49 (2001) 367-376
102. Periquet M., Latouche M., Lohmann E., Rawal N., De Michele G., Ricard S., Teive H., Fraix V., Vidailhet M., Nicholl D., Barone P., Wood N.W., Raskin S., Deleuze J.F., Agid Y., Durr A., and Brice A. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126 (2003) 1271-1278
103. Ujike H., Yamamoto M., Kanzaki A., Okumura K., Takaki M., and Kuroda S. Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease. Mov. Disord. 16 (2001) 111-113
104. Maruyama M., Ikeuchi T., Saito M., Ishikawa A., Yuasa T., Tanaka H., Hayashi S., Wakabayashi K., Takahashi H., and Tsuji S. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann. Neurol. 48 (2000) 245-250
105. Khan N.L., Brooks D.J., Pavese N., Sweeney M.G., Wood N.W., Lees A.J., and Piccini P. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 125 (2002) 2248-2256
106. Pramstaller P.P., Kis B., Eskelson C., Hedrich K., Scherer M., Schwinger E., Breakefield X.O., Kramer P.L., Ozelius L.J., and Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov. Disord. 17 (2002) 424-426
107. Farrer M., Chan P., Chen R., Tan L., Lincoln S., Hernandez D., Forno L., Gwinn-Hardy K., Petrucelli L., Hussey J., Singleton A., Tanner C., Hardy J., and Langston J.W. Lewy bodies and parkinsonism in families with parkin mutations. Ann. Neurol. 50 (2001) 293-300
108. Lincoln S.J., Maraganore D.M., Lesnick T.G., Bounds R., de Andrade M., Bower J.H., Hardy J.A., and Farrer M.J. Parkin variants in North American Parkinson's disease: cases and controls. Mov. Disord. 18 (2003) 1306-1311
109. Kay D.M., Moran D., Moses L., Poorkaj P., Zabetian C.P., Nutt J., Factor S.A., Yu C.E., Montimurro J.S., Keefe R.G., Schellenberg G.D., and Payami H. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann. Neurol. 61 (2007) 47-54
110. Takahashi H., Ohama E., Suzuki S., Horikawa Y., Ishikawa A., Morita T., Tsuji S., and Ikuta F. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 44 (1994) 437-441
111. van De Warrenburg B.P., Lammens M., Lucking C.B., Denefle P., Wesseling P., Booij J., Praamstra P., Quinn N., Brice A., and Horstink M.W. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56 (2001) 555-557
112. Mori H., Kondo T., Yokochi M., Matsumine H., Nakagawa-Hattori Y., Miyake T., Suda K., and Mizuno Y. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q [see comments]. Neurology 51 (1998) 890-892
113. Rawal N., Periquet M., Lohmann E., Lucking C.B., Teive H.A., Ambrosio G., Raskin S., Lincoln S., Hattori N., Guimaraes J., Horstink M.W., Dos Santos Bele W., Brousolle E., Destee A., Mizuno Y., Farrer M., Deleuze J.F., De Michele G., Agid Y., Durr A., Brice A., Wu R.M., Shan D.E., Sun C.M., Liu R.S., Hwu W.L., Tai C.H., Hussey J., West A., Gwinn-Hardy K., Hardy J., Chen J., Chan P., Chen R., Tan L., Hernandez D., Forno L., Petrucelli L., Singleton A., Tanner C., and Langston J.W. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology 60 (2003) 1378-1381
114. Pramstaller P.P., Schlossmacher M.G., Jacques T.S., Scaravilli F., Eskelson C., Pepivani I., Hedrich K., Adel S., Gonzales-McNeal M., Hilker R., Kramer P.L., and Klein C. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann. Neurol. 58 (2005) 411-422
115. Gu W.J., Corti O., Araujo F., Hampe C., Jacquier S., Lucking C.B., Abbas N., Duyckaerts C., Rooney T., Pradier L., Ruberg M., and Brice A. The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates. Neurobiol. Dis. 14 (2003) 357-364
116. Satoh J., and Kuroda Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. Neuroreport 10 (1999) 2735-2739
117. Lucking C.B., Chesneau V., Lohmann E., Verpillat P., Dulac C., Bonnet A.M., Gasparini F., Agid Y., Durr A., and Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch. Neurol. 60 (2003) 1253-1256
118. West A.B., Maraganore D., Crook J., Lesnick T., Lockhart P.J., Wilkes K.M., Kapatos G., Hardy J.A., and Farrer M.J. Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Hum. Mol. Genet. 11 (2002) 2787-2792
119. Klein C., Schumacher K., Jacobs H., Hagenah J., Kis B., Garrels J., Schwinger E., Ozelius L., Pramstaller P., Vieregge P., and Kramer P.L. Association studies of Parkinson's disease and parkin polymorphisms. Ann. Neurol. 48 (2000) 126-127
120. G.D. Mellick, D.D. Buchanan, N. Hattori, A.J. Brookes, Y. Mizuno, D.G. Le Couteur, and P.A. Silburn, The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls. 7 (2001) 89-91.
121. Oliveira S.A., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Koller W.C., Lyons K.E., Pahwa R., Stern M.B., Hiner B.C., Jankovic J., Ondo W.G., Allen Jr. F.H., Scott B.L., Goetz C.G., Small G.W., Mastaglia F.L., Stajich J.M., Zhang F., Booze M.W., Reaves J.A., Middleton L.T., Haines J.L., Pericak-Vance M.A., Vance J.M., and Martin E.R. Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. Arch. Neurol. 60 (2003) 975-980
122. Wang M., Hattori N., Matsumine H., Kobayashi T., Yoshino H., Morioka A., Kitada T., Asakawa S., Minoshima S., Shimizu N., and Mizuno Y. Polymorphism in the parkin gene in sporadic Parkinson's disease. Ann. Neurol. 45 (1999) 655-658
123. Valente E.M., Salvi S., Ialongo T., Marongiu R., Elia A.E., Caputo V., Romito L., Albanese A., Dallapiccola B., and Bentivoglio A.R. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann. Neurol. 56 (2004) 336-341
124. Hatano Y., Li Y., Sato K., Asakawa S., Yamamura Y., Tomiyama H., Yoshino H., Asahina M., Kobayashi S., Hassin-Baer S., Lu C.S., Ng A.R., Rosales R.L., Shimizu N., Toda T., Mizuno Y., and Hattori N. Novel PINK1 mutations in early-onset parkinsonism. Ann. Neurol. 56 (2004) 424-427
125. Bonifati V., Rohe C.F., Breedveld G.J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D.J., Chien H.F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M.W., Maat-Kievit J.A., Sampaio C., Antonini A., Stocchi F., Montagna P., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., and Oostra B.A. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65 (2005) 87-95
126. Hedrich K., Hagenah J., Djarmati A., Hiller A., Lohnau T., Lasek K., Grunewald A., Hilker R., Steinlechner S., Boston H., Kock N., Schneider-Gold C., Kress W., Siebner H., Binkofski F., Lencer R., Munchau A., and Klein C. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?. Arch. Neurol. 63 (2006) 833-838
127. Prestel J., Gempel K., Hauser T.K., Schweitzer K., Prokisch H., Ahting U., Freudenstein D., Bueltmann E., Naegele T., Berg D., Klopstock T., and Gasser T. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J. Neurol. 255 5 (2008) 643-648
128. Marongiu R., Brancati F., Antonini A., Ialongo T., Ceccarini C., Scarciolla O., Capalbo A., Benti R., Pezzoli G., Dallapiccola B., Goldwurm S., and Valente E.M. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Hum. Mutat. 28 (2007) 98
129. Albanese A., Valente E.M., Romito L.M., Bellacchio E., Elia A.E., and Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology 64 (2005) 1958-1960
130. Ephraty L., Porat O., Israeli D., Cohen O.S., Tunkel O., Yael S., Hatano Y., Hattori N., and Hassin-Baer S. Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations. Mov. Disord. 22 (2007) 566-569
131. Gelmetti V., Ferraris A., Brusa L., Romano F., Lombardi F., Barzaghi C., Stanzione P., Garavaglia B., Dallapiccola B., and Valente E.M. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Mov. Disord. 23 6 (2008) 881-885
132. Yang Y., Gehrke S., Imai Y., Huang Z., Ouyang Y., Wang J.W., Yang L., Beal M.F., Vogel H., and Lu B. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by parkin. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 10793-10798
133. van Duijn C.M., Dekker M.C., Bonifati V., Galjaard R.J., Houwing-Duistermaat J.J., Snijders P.J., Testers L., Breedveld G.J., Horstink M., Sandkuijl L.A., van Swieten J.C., Oostra B.A., and Heutink P. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am. J. Hum. Genet. 69 (2001) 629-634
134. Abou-Sleiman P.M., Healy D.G., Quinn N., Lees A.J., and Wood N.W. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann. Neurol. 54 (2003) 283-286
135. Hering R., Strauss K.M., Tao X., Bauer A., Woitalla D., Mietz E.M., Petrovic S., Bauer P., Schaible W., Muller T., Schols L., Klein C., Berg D., Meyer P.T., Schulz J.B., Wollnik B., Tong L., Kruger R., and Riess O. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum. Mutat. 24 (2004) 321-329
136. Annesi G., Savettieri G., Pugliese P., D'Amelio M., Tarantino P., Ragonese P., La Bella V., Piccoli T., Civitelli D., Annesi F., Fierro B., Piccoli F., Arabia G., Caracciolo M., Ciro Candiano I.C., and Quattrone A. DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann. Neurol. 58 (2005) 803-807
137. Canet-Aviles R.M., Wilson M.A., Miller D.W., Ahmad R., McLendon C., Bandyopadhyay S., Baptista M.J., Ringe D., Petsko G.A., and Cookson M.R. The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 9103-9108
138. Hasegawa T., Treis A., Patenge N., Fiesel F.C., Springer W., and Kahle P.J. Parkin protects against tyrosinase-mediated dopamine neurotoxicity by suppressing stress-activated protein kinase pathways. J. Neurochem. 105 (2008) 1700-1715
139. Henn I.H., Bouman L., Schlehe J.S., Schlierf A., Schramm J.E., Wegener E., Nakaso K., Culmsee C., Berninger B., Krappmann D., Tatzelt J., and Winklhofer K.F. Parkin mediates neuroprotection through activation of IkappaB kinase/nuclear factor-kappaB signaling. J. Neurosci. 27 (2007) 1868-1878
140. Lo Bianco C., Schneider B.L., Bauer M., Sajadi A., Brice A., Iwatsubo T., and Aebischer P. Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 17510-17515
141. DeStefano A.L., Lew M.F., Golbe L.I., Mark M.H., Lazzarini A.M., Guttman M., Montgomery E., Waters C.H., Singer C., Watts R.L., Currie L.J., Wooten G.F., Maher N.E., Wilk J.B., Sullivan K.M., Slater K.M., Saint-Hilaire M.H., Feldman R.G., Suchowersky O., Lafontaine A.L., Labelle N., Growdon J.H., Vieregge P., Pramstaller P.P., Klein C., Hubble J.P., Reider C.R., Stacy M., MacDonald M.E., Gusella J.F., and Myers R.H. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am. J. Hum. Genet. 70 (2002) 1089-1095
142. Pankratz N., Uniacke S.K., Halter C.A., Rudolph A., Shults C.W., Conneally P.M., Foroud T., and Nichols W.C. Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. Neurology 62 (2004) 1616-1618
143. Martinez M., Brice A., Vaughan J.R., Zimprich A., Breteler M.M., Meco G., Filla A., Farrer M.J., Betard C., Hardy J., De Michele G., Bonifati V., Oostra B., Gasser T., Wood N.W., and Durr A. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J. Med. Genet. 41 (2004) 900-907
144. Karamohamed S., DeStefano A.L., Wilk J.B., Shoemaker C.M., Golbe L.I., Mark M.H., Lazzarini A.M., Suchowersky O., Labelle N., Guttman M., Currie L.J., Wooten G.F., Stacy M., Saint-Hilaire M., Feldman R.G., Sullivan K.M., Xu G., Watts R., Growdon J., Lew M., Waters C., Vieregge P., Pramstaller P.P., Klein C., Racette B.A., Perlmutter J.S., Parsian A., Singer C., Montgomery E., Baker K., Gusella J.F., Fink S.J., Myers R.H., and Herbert A. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 61 (2003) 1557-1561
145. Sharma M., Mueller J.C., Zimprich A., Lichtner P., Hofer A., Leitner P., Maass S., Berg D., Durr A., Bonifati V., De Michele G., Oostra B., Brice A., Wood N.W., Muller-Myhsok B., and Gasser T. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J. Med. Genet. 43 (2006) 557-562
146. Maraganore D.M., Lesnick T.G., Elbaz A., Chartier-Harlin M.C., Gasser T., Kruger R., Hattori N., Mellick G.D., Quattrone A., Satoh J., Toda T., Wang J., Ioannidis J.P., de Andrade M., and Rocca W.A. UCHL1 is a Parkinson's disease susceptibility gene. Ann. Neurol. 55 (2004) 512-521
147. Hicks A.A., Petursson H., Jonsson T., Stefansson H., Johannsdottir H.S., Sainz J., Frigge M.L., Kong A., Gulcher J.R., Stefansson K., and Sveinbjornsdottir S. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 52 (2002) 549-555
148. Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Rudolph A., Shults C., Conneally P.M., and Foroud T. Significant linkage of Parkinson disease to chromosome 2q36-37. Am. J. Hum. Genet. 72 (2003) 1053-1057
149. Prestel J., Sharma M., Leitner P., Zimprich A., Vaughan J.R., Durr A., Bonifati V., De Michele G., Hanagasi H.A., Farrer M., Hofer A., Asmus F., Volpe G., Meco G., Brice A., Wood N.W., Muller-Myhsok B., and Gasser T. PARK11 is not linked with Parkinson's disease in European families. Eur. J. Hum. Genet. 13 (2005) 193-197
150. Bras J., Simon-Sanchez J., Federoff M., Morgadinho A., Januario C., Ribeiro M., Cunha L., Oliveira C., and Singleton A.B. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum. Mol. Genet. 18 2 (2009) 341-346
151. Aharon-Peretz J., Rosenbaum H., and Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351 (2004) 1972-1977
152. Mata I.F., Samii A., Schneer S.H., Roberts J.W., Griffith A., Leis B.C., Schellenberg G.D., Sidransky E., Bird T.D., Leverenz J.B., Tsuang D., and Zabetian C.P. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch. Neurol. 65 (2008) 379-382
153. De Marco E.V., Annesi G., Tarantino P., Rocca F.E., Provenzano G., Civitelli D., Ciro Candiano I.C., Annesi F., Carrideo S., Condino F., Nicoletti G., Messina D., Novellino F., Morelli M., and Quattrone A. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov. Disord. 23 (2008) 460-463
154. Ziegler S.G., Eblan M.J., Gutti U., Hruska K.S., Stubblefield B.K., Goker-Alpan O., LaMarca M.E., and Sidransky E. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab. 91 (2007) 195-200