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Progress in familial Parkinson’s disease

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Parkinson’s Disease and Related Disorders

Part of the book series: Journal of Neural Transmission. Supplementa ((NEURALTRANS,volume 70))

Summary

To date 11 forms of familial Parkinson’s disease (PD) have been mapped to different chromosome loci, of which 6 genes have been identified as the causative genes, i.e., alpha-synuclein (SNCA), parkin,UCH-L1, PINK1, DJ-1, and LRRK2. For UCH-L1, additional families with this mutation are necessary before concluding that UCH-L1 is the definite causative gene for PARK5, as only one family so far has been reported. SNCA, UCH-L1, and LRRK2 mutations cause autosomal dominant PD and the remaining gene mutations autosomal recessive PD. Age of onset tends to be younger in familial PD compared with sporadic PD, particularly so in autosomal recessive PD. Generally familial cases respond to levodopa quite nicely and progression of the disease tends to be slower. It is an interesting question how familial PD-causing proteins are mutually related each other. In this article, we review recent progress in genetics and molecular biology of familial PD.

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References

  • Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradler L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A, the French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic susceptibility in Parkinson’s Disease (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in europe. Hum Mol Gen 8: 567–574

    Article  PubMed  CAS  Google Scholar 

  • Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW (2003) The role of pathogenic DJ-1 mutations in Parkinson’s disease. Ann Neurol 54: 283–286

    Article  PubMed  CAS  Google Scholar 

  • Benbunan BR, Korczyn AD, Giladi N (2004) Parkin mutation associated parkinsonism and cognitive decline, comparison to early onset Parkinson’s disease. J Neural Transm 111: 47–57

    Article  PubMed  CAS  Google Scholar 

  • Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MCJ, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299: 256–259

    Article  PubMed  CAS  Google Scholar 

  • Bosgraaf L, Haastert PJMV (2003) Roc, a Ras/GTPase domain in complex proteins. BBA 1643: 5–10

    PubMed  CAS  Google Scholar 

  • Canet-Aviles RM, Wilson MA, Miller DW, Ahmad R, McLendon C, Bandyopadhyay S, Baptista MJ, Ringe D, Petsko GA, Cookson MR (2004) The Parkinson’s disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci USA 101: 9103–9108

    Article  PubMed  CAS  Google Scholar 

  • Chartier-Harlin MC, 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, Destee A (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease. Lancet 364: 1167–1169

    Article  PubMed  CAS  Google Scholar 

  • Chung KKK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (2001) Parkin ubiquitinates the alpha-synuclein-interacting protein synphilin-1: implications for Lewy-body formation in Parkinson disease. Nature Med 7: 1144–1150

    Article  PubMed  CAS  Google Scholar 

  • Dekker M, Bonifati V, van Swieten J, Leenders N, Galjaard RJ, Snijders P, Horstink M, Heutink P, Oostra B, van Duijn C (2003) Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov Disord 18: 751–757

    Article  PubMed  Google Scholar 

  • Dekker MC, Galjaard RJ, Snijders PJ, Heutink P, Oostra BA, van Duijn CM (2004) Brachydactyly and short stature in a kindred with early-onset parkinsonism. Am J Med Genet A 130: 102–104

    Article  PubMed  Google Scholar 

  • Denson M, Wszolek ZK (1995) Familial parkinsonism: our experience and review. Parkinsonism Related Disord 1: 35–46

    Article  Google Scholar 

  • El Agnaf OM, Jakes R, Curran MD, Wallace A (1998) Effects of the mutations Ala30 to Pro and Ala 53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson’s disease. FEBS Lett 440: 67–70

    Article  PubMed  Google Scholar 

  • Faccio R, Fusco C, Chen A, Martinotti S, Bonventre JV, Zervos AS (2000) Characterization of novel human serine protease that has extensive homology to cabterial heat shock endoprotease HtrA and is regulated by kidney ischemia. J Biol Chem 275: 2581–2588

    Article  PubMed  CAS  Google Scholar 

  • Farrer M, Gwinn-Hardy K, Muenter M, De Vrièze FW, Crook R, Prez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Walters C, Hardy JA (1999) A chromosome 4p haplotype segreagating with Parkinson’s disease and postural tremor. Hum Mol Genet 8: 81–85

    Article  PubMed  CAS  Google Scholar 

  • Fujiwara H, Hasegawa M, Dohmae N, Kawashima A, Masliah E, Goldberg MS, Shen J, Takio K, Iwatsubo T (2002) Alpha-synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 4: 160–164

    Article  PubMed  CAS  Google Scholar 

  • Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F (2002) A New locus for Parkinson’s disease (PARK 8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51: 296–301

    Article  PubMed  CAS  Google Scholar 

  • Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson’s disease maps to chromosome 2p13. Nature Genet 18: 262–265

    Article  PubMed  CAS  Google Scholar 

  • Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC (1990) A large kindred with autosomal dominant Parkinson’s disease. Ann Neurol 27: 276–282

    Article  PubMed  CAS  Google Scholar 

  • Gorner K, Holtorf E, Odoy S, Nuscher B, Yamamoto A, Regula JT, Beyer K, Haass C, Kahle PJ (2004) Differential effects of Parkinson’s disease-associated mutations on stability and folding of DJ-1. J Biol Chem 279: 6943–6951

    Article  PubMed  Google Scholar 

  • Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003) Earlyonset Parkinson’s disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 54: 271–274

    Article  PubMed  CAS  Google Scholar 

  • Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Ariekat AL, Al-Din A, Woods CG (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 38: 690–692

    Article  Google Scholar 

  • Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56: 424–427

    Article  PubMed  CAS  Google Scholar 

  • Hattori N, Matsumine H, Kitada T, Asakawa S, Yamamura Y, Kobayashi T, Yokochi M, Yoshino H, Wang M, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular analysis of a novel ubiquitin-like protein (PARKIN) gene in Japanese families with AR-JP: evidence of homozygous deletions in the PARKIN gene in affected individuals. Ann Neurol 44: 935–941

    Article  PubMed  CAS  Google Scholar 

  • Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, Gosal D, Muqit MM, Wood NW, Lynch T (2004) PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 63: 1486–1488

    PubMed  CAS  Google Scholar 

  • Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P (2004) Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19: 1146–1157

    Article  PubMed  Google Scholar 

  • Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O (2004) Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). HumMutat 24: 321–329

    CAS  Google Scholar 

  • Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S (2002) A susceptibility gene for late-onset idiopathic Parkinson’s disease. Ann Neurol 52: 549–555

    Article  PubMed  CAS  Google Scholar 

  • Honbou K, Suzuki NN, Horiuchi M, Niki T, Taira T, Ariga H, Inagaki F (2003) The crystal structure of DJ-1, a protein related to male fertility and Parkinson’s disease. J Biol Chem 278: 31380–31384

    Article  PubMed  CAS  Google Scholar 

  • Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P, Agid Y, Durr A, Brice A (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson’s disease. Lancet 364: 1169–1171

    Article  PubMed  CAS  Google Scholar 

  • Imai Y, Soda M, Inoue H, Hattori N, Mizuno Y, Takahashi R (2001) An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 105: 891–902

    Article  PubMed  CAS  Google Scholar 

  • Jones JM, Datta P, Srinivasula SM, Ji W, Gupta S, Zhang Z, Davies E, Hajnoczky G, Saunders TL, Van Keuren ML, Fernandes-Alnemri T, Meisler MH, Alnemri ES (2003) Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature 425: 721–727

    Article  PubMed  CAS  Google Scholar 

  • Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N (2003) Parkin disease: a phenotypic study of a large case series. Brain 126: 1279–1292

    Article  PubMed  Google Scholar 

  • Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Deletion mutation in a novel protein “Parkin” gene causes autosomal recessive juvenile parkinsonism (AR-JP). Nature 392: 605–608

    Article  PubMed  CAS  Google Scholar 

  • Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, Przuntek H, Epplen JT, Schöls L, Riess O (1998) Ala30Pro mutation in the gene encoding α-synuclein in Parkinson’s disease. Nature Genet 18: 106–108

    Article  PubMed  Google Scholar 

  • Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T (2001) Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J Neurol Neurosurg Psychiatry 71: 231–234

    Article  PubMed  CAS  Google Scholar 

  • Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson’s disease. Nature 395: 451–452

    Article  PubMed  CAS  Google Scholar 

  • Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Atoda T, Mizuno Y, Hattori H (2005) Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64: 1955–1957

    Article  PubMed  CAS  Google Scholar 

  • Lim KL, Chew KC, Tan JM, Wang C, Chung KK, Zhang Y, Tanaka Y, Smith W, Engelender S, Ross CA, Dawson VL, Dawson TM (2005) Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. J Neurosci 25: 2002–2009

    Article  PubMed  CAS  Google Scholar 

  • Lincolon SJ, Maraganore DM, Lesnick TG, Bounds R, Andrade Md, Bower JH, Hardy JA, Farrer MJ (2003) Parkin variants in North American Parkinson’s disease: cases and controls. Mov Disord 18: 1306–1311

    Article  Google Scholar 

  • Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Deneêfle P, Wood NW, Agid Y, Brice A, European Consortium of Genetic Susceptibility in PD, French PD Genetics Study Group (2000) Association between early-onset Parkinson’s disease and mutations in the parkin gene. N Engl J Med 342: 1560–1567

    Article  PubMed  Google Scholar 

  • Macedo MG, Anar B, Bronner IF, Cannella M, Squitieri F, Bonifati V, Hoogeveen A, Heutink P, Rizzu P (2003) The DJ-1L166P mutant protein associated with early onset Parkinson’s disease is unstable and forms higher-order protein complexes. Hum Mol Genet 12: 2807–2816

    Article  PubMed  CAS  Google Scholar 

  • Machida Y, Chiba T, Takayanagi A, Tanaka Y, Asanuma M, Ogawa N, Koyama A, Iwatsubo T, Ito S, Jansen PH, Shimizu N, Tanaka K, Mizuno Y, Hattori N (2005) Common anti-apoptotic roles of parkin and alpha-synuclein in human dopaminergic cells. Biochem Biophys Res Commun 332: 233–240

    Article  PubMed  CAS  Google Scholar 

  • Martins LM, Morrison A, Klupsch K, Fedele V, Moisoi N, Teismann P, Abuin A, Grau E, Geppert M, Livi GP, Creasy CL, Martin A, Hargreaves I, Heales SJ, Okada H, Brandner S, Schulz JB, Mak T, Downward J (2004) Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. Mol Cell Biol 24: 9848–9862

    Article  PubMed  CAS  Google Scholar 

  • Miller DW, Ahmad R, Hague S, Baptista MJ, Canet-Aviles R, McLendon C, Carter DM, Zhu PP, Stadler J, Chandran J, Klinefelter GR, Blackstone C, Cookson MR (2003) L166P mutant DJ-1, causative for recessive Parkinson’s disease, is degraded through the ubiquitin-proteasome system. J Biol Chem 278: 36588–36595

    Article  PubMed  CAS  Google Scholar 

  • Moore DJ, Zhang L, Troncoso J, Lee MK, Hattori N, Mizuno Y, Dawson TM, Dawson VL (2005) Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum Mol Genet 14: 71–84

    Article  PubMed  CAS  Google Scholar 

  • Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB (1998) Hereditary form of parkinsoism-dementia. Ann Neurol 43: 768–781

    Article  PubMed  CAS  Google Scholar 

  • Nagakubo D, Taira T, Kitaura H, Ikeda M, Tamai K, Iguchi-Ariga SM, Ariga H (1997) DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. Biochem Biophys Res Commun 231: 509–513

    Article  PubMed  CAS  Google Scholar 

  • Nichols WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T; Parkinson Study Group-PROGENI investigators (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson’s disease. Lancet 365: 410–412

    PubMed  CAS  Google Scholar 

  • Nukada H, Kowa H, Saito T, Tasaki Y, Miura S (1978) A big family of paralysis agitans. Rinshoshinkeigaku 18: 627–634

    CAS  Google Scholar 

  • Okuma Y, Hattori N, Mizuno Y (2003) Case report: Sensory neuropathy in autosomal recessive juvenile parkinsonism (PARK2). Parkinsonism Rel Disord 9: 313–314

    Google Scholar 

  • Olivieira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small BW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Womm MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM (2003) Parkin mutations and susceptibility alleles in late-onset Parkinson’s disease. Ann Neurol 53: 624–629

    Article  Google Scholar 

  • Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, de Munain AL, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (2004) Cloning of the gene containing mutations that cause PARK8-Linked Parkinson’s disease. Neuron 44: 595–600

    Article  PubMed  CAS  Google Scholar 

  • Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T; Parkinson Study Group (2003) Significant linkage of Parkinson disease to chromosome 2q36–37. Am J Hum Genet 72: 1053–1057

    Article  PubMed  CAS  Google Scholar 

  • Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Pike ADB, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the a-synuclein gene identified in families with Parkinson’s disease. Science 276: 2045–2047

    Article  PubMed  CAS  Google Scholar 

  • Pramistaller PP, Künig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C (2002) Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study. Neurology 58: 808–810

    Google Scholar 

  • Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V (2004) Homozygous PINK1 Cterminus mutation causing early-onset parkinsonism. Ann Neurol 56: 427–431

    Article  PubMed  CAS  Google Scholar 

  • Saigoh K, Wang YL, Suh JG, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Sakana S, Kikuchi T, Wada K(1999) Intragenic deletion in the gene encoding ubiquitin cartoxy-terminal hydrolase in gad mice. Nature Genet 23: 47–51

    PubMed  CAS  Google Scholar 

  • Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T (2000) Familial Parkinson’s disease gene product, Parkin, is a ubiquitin-protein ligase. Nature Genet 25: 302–305

    Article  PubMed  CAS  Google Scholar 

  • Shimura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R, Mizuno Y, Kosik KS, Selkoe DJ (2001) Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implication for Parkinson’s disease. Science 293: 263–269

    Article  PubMed  CAS  Google Scholar 

  • Singleton AB, Farrer M, Johnston 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 MR, Muenter M, Baptista M, Miller C, Balncato J, Hardy J, Gwinn-Hardy K (2003) Alpha-synuclein locus triplication causes Parkinson’s disease. Science 302: 841

    Article  PubMed  CAS  Google Scholar 

  • Snyder H, Mensah K, Theisler C, Lee J, Matouschek A, Wolozin B (2003) Aggregated and monomeric alpha-synuclein bind to the S6′ proteasomal protein and inhibit proteasomal function. J Biol Chem 278: 11753–11759

    Article  PubMed  CAS  Google Scholar 

  • Spellman GG (1962) Report of familial cases of parkinsonism: evidence of adominant trait in a patient’s family. JAMA 179: 372–374

    PubMed  CAS  Google Scholar 

  • Spillantini MG, Schmidt ML, Lee AMY, Trajanowski JQ, Jakes R, Goedert M (1997) Alpha-synuclein in Lewy bodies. Nature 388: 839–840

    Article  PubMed  CAS  Google Scholar 

  • Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15: 356–362

    Article  PubMed  CAS  Google Scholar 

  • Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Muller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz1 JB, Kruger R (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson’s disease. Hum Mol Genet 14: 2099–2111

    Article  PubMed  CAS  Google Scholar 

  • Suzuki Y, Imai Y, Nakayama H, Takahashi K, Takio K, Takahashi R (2001) A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death. Mol Cell 8: 613–621

    Article  PubMed  CAS  Google Scholar 

  • Taira T, Saito Y, Niki T, Iguchi-Ariga SM, Takahashi K, Ariga H (2004) DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep 5: 213–218

    Article  PubMed  CAS  Google Scholar 

  • Tanaka K, Suzuki T, Hattori N, Mizuno Y (2004) Ubiquitin, proteasome and parkin. BBA 1695: 235–247

    PubMed  CAS  Google Scholar 

  • Tanaka Y, Engelender S, Igarashi S, Rao RK, Wanner T, Tanzi RE, Dawson V, Dawson TM, Ross CA (2001) Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis. Hum Mol Genet 10: 919–926

    Article  PubMed  CAS  Google Scholar 

  • Tao X, Tong L (2003) Crystal structure of human DJ-1, a protein associated with early onset Parkinson’s disease. J Biol Chem 278: 31372–31379

    Article  PubMed  CAS  Google Scholar 

  • Tassin J, Dürr A, de Brouchker T, Abbas N, Bonifati V, Michele GD, Bonnet AM, Broussolle E, Pollak P, Vidaihet M, Mari MD, Marconi R, Madjbeur S, Filla A, Meco G, Yves A, Brice A, The French Parkinson’s Disease Genetics Study Group, The European Consortium on Genetic Susceptibility in Parkinson’s Disease (1998) 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: 88–94

    Article  PubMed  CAS  Google Scholar 

  • Valente EM, Bentivolglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW (2001) Localization of a novel locus for autoromal recessive early-onset parkinsonims, PARK6, on human chromosome 1p35–36. Am J Hum Genet 68: 895–900

    Article  PubMed  CAS  Google Scholar 

  • Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson’s disease caused by mutations in PINK1. Science 304: 1158–1160

    Article  PubMed  CAS  Google Scholar 

  • Volles MJ, Lansbury PT Jr (2002) Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson’s disease-linked mutations and occurs by a pore-like mechanism. Biochemistry 41: 4595–4602

    Article  PubMed  CAS  Google Scholar 

  • Waters CH, Miller CA (1994) Autosomal-dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 35: 59–64

    Article  PubMed  CAS  Google Scholar 

  • Weinreb PH, Zhen W, Poon AW, Conway KA, Lansbury PT Jr (1996) NACP, a protein implicated in Alzheimer’s disease and learning, is natively unfolded. Biochemistry 35: 13709–13715

    Article  PubMed  CAS  Google Scholar 

  • Wilson MA, Collins JL, Hod Y, Ringe D, Petsko GA (2003) The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson’s disease. Proc Natl Acad Sci USA 100: 9256–9261

    Article  PubMed  CAS  Google Scholar 

  • Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 45: 502–505

    PubMed  CAS  Google Scholar 

  • Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Muller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW (2004) Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62: 1619–1622

    PubMed  CAS  Google Scholar 

  • Yamamura Y, Sobue I, Ando K, Iida M, Yanagi T, Kono C (1973) Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23: 239–244

    PubMed  CAS  Google Scholar 

  • Yamamura Y, Kuzuhara S, Kondo K, Matsumine H, Mizuno Y (1998) Clinical, pathologic, and genetic studies on autosomal recessive early-onset parkinsonism with diurnal fluctuation. Parkinsonism Rel Disord 4: 65–72

    Article  Google Scholar 

  • Zarranz JJ, Alegre J, Gémez-Esteban J, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, Tortosa EG, del Ser T, Muñiz DG, de Yebenes JG (2004) The new mutation, E46K, of alpha-synuclein causes Parkinsona dn Lewy body dementia. Ann Neurol 55: 164–173

    Article  PubMed  CAS  Google Scholar 

  • Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM (2000) Parkin functions as an E2 dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle associated protein, CDCrel-1. Proc Natl Acad Sci USA 21: 13354–13359

    Article  Google Scholar 

  • Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44: 601–607

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo, 113-8421, Japan

    Prof. Y. Mizuno MD, N. Hattori, H. Yoshino, Y. Hatano, K. Satoh, H. Tomiyama & Y. Li

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  1. Prof. Y. Mizuno MD
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  2. N. Hattori
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  3. H. Yoshino
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  4. Y. Hatano
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  5. K. Satoh
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  6. H. Tomiyama
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  7. Y. Li
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Editors and Affiliations

  1. Klinik und Poliklinik für Psychiatrie und Psychotherapie, Würzburg, Germany

    P. Riederer  & M. Gerlach  & 

  2. Universitätsklinikum der TU Dresden, Dresden, Germany

    H. Reichmann

  3. Israel Institute of Technology, Haifa, Israel

    M. B. H. Youdim

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© 2006 Springer-Verlag

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Mizuno, Y. et al. (2006). Progress in familial Parkinson’s disease. In: Riederer, P., Reichmann, H., Youdim, M.B.H., Gerlach, M. (eds) Parkinson’s Disease and Related Disorders. Journal of Neural Transmission. Supplementa, vol 70. Springer, Vienna . https://doi.org/10.1007/978-3-211-45295-0_30

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  • DOI: https://doi.org/10.1007/978-3-211-45295-0_30

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-28927-3

  • Online ISBN: 978-3-211-45295-0

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