Genetics of parkinsonism

Movement Disorders

Volumn 17, Issue 4, 2002, Pages 645-656

  Gwinn Hardy, Katrina ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

synuclein; Genetics; Lewy body; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; PARKIN; LIGASE; NERVE PROTEIN; SNCA PROTEIN, HUMAN; SYNUCLEIN; UBIQUITIN PROTEIN LIGASE;

CHROMOSOME 2P; CHROMOSOME 4P; DEMENTIA; ENVIRONMENTAL FACTOR; ESSENTIAL TREMOR; FAMILIAL DISEASE; GENE LOCUS; GENETIC LINKAGE; GENETICS; HEREDITY; LEWY BODY; MUTATION; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; REVIEW; CHROMOSOME MAP; DIFFUSE LEWY BODY DISEASE; HUMAN; PARKINSON DISEASE;

ALPHA-SYNUCLEIN; CHROMOSOME MAPPING; ESSENTIAL TREMOR; HUMANS; LEWY BODY DISEASE; LIGASES; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PARKINSONIAN DISORDERS; SUPRANUCLEAR PALSY, PROGRESSIVE; SYNUCLEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 0036654314     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10173     Document Type: Review

References (146)

1. Leroux PD. Contribution à l'étude des causes de la paralysie agitante. 1880; Thesis, Parks.
2. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
3. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
4. Gasser T, Muller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18:262-265.
5. Farrer M, Gwinn-Hardy K, Muenter M, et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999;8:81-85.
6. Valente EM, Bentivoglio AR, Dixon PH, et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001;68:895-900.
7. Van Duijn CM, Dekker MCJ, Bonifati V, et al. PARK7, a novel locus for autosomal recessive early-onset parkinsonism on chromosome 1p36. Am J Hum Genet 2001;69:629-634.
8. Hicks A, Petursson H, Jonsson T, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease successfully mapped. Am J Hum Genet 2001;69:200.
9. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson's disease. Arch Neurol 1999;56:33-39.
10. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 1991;55:181-184.
11. Pakkenberg B, Moller A, Gundersen HJ, et al. Cell loss in the substantia nigra in Parkinson's disease. J Neurol Neurosurg Psychiatry 1991;54:30-39.
12. Spillantini MG, Schmidt ML, Lee VM, et al. α-Synuclein in Lewy bodies. Nature 1997;388:839-840.
13. Lennox G, Lowe J, Morrell K, et al. Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease. J Neurol Neurosurg Psychiatry 1989;52:67-71.
14. Dickson DW, Liu W, Hardy J, et al. Widespread alterations of α-synuclein in multiple system atrophy. Am J Pathol 1999;155:1241-1251.
15. Gwinn-Hardy K, Mehta ND, Farrer M, et al. Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathologica 2000;99:663-672.
16. Tu P-H, Galvin JE, Baba M, et al. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble α-synuclein. Ann Neurol 1998;44:415-422.
17. Farrer M, Gwinn-Hardy K, Hutton M, Hardy J. The genetics of disorders with synuclein pathology and parkinsonism. Hum Mol Genet 1999;8:1901-1905.
18. Tanner CM, Gilman R, Goldman SM, et al. Parkinson's disease in twins: an etiologic study. JAMA 1999;281:341-346.
19. Sveinbjornsdottir S, Hicks AA, Jonsson T, et al. Familial aggregation of Parkinson's disease in Iceland. N Engl J Med 2000;343:1765-1770.
20. Holthoff VA, Vieregge P, Kessler J, et al. Discordant twins with Parkinson's disease: positron emission tomography and early signs of impaired cognitive circuits. Ann Neurol 1994;36:176-182.
21. Leroy E, Boyer R, Auburger G. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-452.
22. Hardy J, Gwinn-Hardy K. Genetic classification of primary neurodegenerative disease. Science 1998;282:1075-1079.
23. Hardy J, Gwinn-Hardy K. Neurodegenerative disease: a different view of diagnosis. Mol Med Today 1999;5:514-517.
24. Hardy J. Pathways to primary neurodegenerative disease. Ann NY Acad Sci 2000;924:29-34.
25. Golbe LI, Di Iorio G, Sanges G, et al. Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 1998;40:767-775.
26. Polymeropoulos MH, Higgins JJ, Golbe LI, et al. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 1996;274:1197-1199.
27. Touchman JW, Dehejia A, Chiba-Falek O, et al. Human and mouse α-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res 2001;11:78-86.
28. Ueda K, Fukushima H, Masliah E, et al. Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer's disease. Proc Natl Acad Sci U S A 1993;90:11282-11286.
29. Clayton DF, George JM. The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease. Trends Neurosci 1998;21:249-254.
30. Conway KA, Harper JD, Lansbury PT. Accelerated in vitro fibril formation by a mutant α-synuclein linked to early-onset Parkinson's disease. Nat Med 1998;4:1318-1320.
31. Giasson BI, Uryu K, Trojanowski JQ, Lee VMY. Mutant and wild-type human α-synucleins assemble into elongated filaments with distinct morphologies in vitro. J Biol Chem 1999;274:7619-7622.
32. El-Agnaf OM, Jakes R, Curran MD, Wallace A. Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of α-synuclein protein implicated in Parkinson's disease. FEBS Lett 1998;440:67-70.
33. Langsten JW, Sastry S, Chan P, et al. Novel α-synuclein immunoreactive proteins in brain samples from the Contursi kindred, Parkinson's, and Alzheimer's disease. Exp Neurol 1998;154:684-690.
34. Papadimitriou A, Veletza V, Hadjigeorgiou GM, Patrikiou A, Hirano M, Anastasopoulos I. Mutated α-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance? Neurology 1999;52:651-654.
35. Spira PJ, Sharpe DM, Halliday G, et al. Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr α-synuclein mutation. Ann Neurol 2001;49:313-319.
36. Markopoulou K, Wszolek ZK, Pfeiffer RF, Chase BA. Reduced expression of the G209A α-synuclein allele in familial Parkinsonism. Ann Neurol 1999;46:374-381.
37. Krüger R, Kühn W, Muller T, et al. Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108.
38. Krüger R, Kuhn W, Leenders KL, et al. Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 2001;56:1355-1362.
39. Vaughan J, Farrer M, Gasser T, et al. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Sequencing of the α-synuclein gene in 27 kindreds with familial Parkinson's disease. Hum Mol Genet 1998;7:751-753.
40. Lucotte G, Mercier G, Turpin JCJ. Lack of mutation G209A in the α-synuclein gene in French patients with familial and sporadic Parkinson's disease. Neurol Neurosurg Psychiatry 1998;65:948-949.
41. Farrer M, Wavrant-De Vrieze F, Crook R, et al. Low frequency of α-synuclein mutations in familial Parkinson's disease. Ann. Neurol 1998;43:394-397.
42. Chan DK, Mellick G, Cai H, et al. The α-synuclein gene and Parkinson's disease in a Chinese population. Arch Neurol 2000;57:501-503.
43. Masliah E, Rockenstein E, Veinbergs I, et al. Dopaminergic loss and inclusion body formation in α-synuclein mice: implications for neurodegenerative disorders. Science 2000;18:1265-1269.
44. Matsuoka Y, Vila M, Lincoln S, et al. Lack of nigral pathology in transgenic mice expressing human α-synuclein driven by the tyrosine hydroxylase promoter. Neurobiol Dis 2001;8:535-539.
45. Rathke-Hartlieb S, Kahle PJ, Neumann M, et al. Sensitivity to MPTP is not increased in Parkinson's disease-associated mutant α-synuclein transgenic mice. J Neurochem 2001;77:1181-1184.
46. van der Putten H, Wiederhold K-H, Probst A, et al. Neuropathology in mice expressing human α-synuclein. J Neurosci 2000;20:6021-6029.
47. Abeliovich A, Schmitz Y, Farinas I, et al. Mice lacking α-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 2000;25:239-252.
48. Feany MB, Bender WW. A Drosophila model of Parkinson's disease. Nature 2000;23:394-398.
49. Matsumine H, Saito M, Shimoda-Matsubayashi S, et al. Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 1997;60:588-596.
50. Yamamura Y, Sobue I, Ando K, et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973;23:239-244.
51. Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 1999;8:567-574.
52. Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
53. Yamamura Y, Hattori N, Matsumine H, et al. Autosomal recessive early onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and a molecular genetic identification. Brain Dev 2000:22(Suppl.):S87-S91.
54. Lücking CB, Abbas N, Durr A, et al. 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 1998;352:1355-1356.
55. Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996;47:160-166.
56. Takahashi H, Ohama E, Suzuki S, et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 1994;44:437-441.
57. Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
58. Leroy E, Anastasopoulos D, Konitsiotis S, et al. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet 1998;103:424-427.
59. Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
60. Farrer M, Chan P, Chen R, et al. Lewy Bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001;50:293-300.
61. Shimura H, Schlossmacher MG, Hattori N, et al. Ubiquitination of a new form of α-synuclein by parkin from human brain: implications for Parkinson's disease. Science 2001;293:263-269.
62. van de Warrenburg BPC, Lammens M, Lücking CB, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001;56:555-557.
63. Maraganore DM, Farrer MJ, Hardy JA, et al. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 1999;53:1858-1860.
64. Zhang Y, Gao J, Chung KK, et al. 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 U S A 2000;97:13354-13359.
65. Larsen CN, Krantz BA, Wilkinson KD. Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases. Biochemistry 1998;10:37:3358-3368.
66. Shimura H, Hattori N, Kubo Si, et al. Familial Parkinson's disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302-305.
67. Wszolek ZK, Cordes M, Calne DB, et al. Hereditary Parkinson's disease: report of three families with dominant autosomal inheritance. Nervenarzt 1993;64:331-335.
68. Gasser T, Wszolek ZK, Trofatter J, et al. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 1994;36:387-396.
69. Wszolek Z, Gwinn-Hardy K, Wszolek EK, et al. Neuropathology of two members of a German-American kindred (Family C) with late-onset Parkinsonism. Acta Neuropathologica (in press).
70. Spellman GG. Report of familial cases of parkinsonism. JAMA 1962;179:160-162.
71. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol 1998;43:768-781.
72. Waters CH, Miller CA. Autosomal dominant parkinsonism in a four generation family. Ann Neurol 1994;35:59-64.
73. Valente EM, Brancati F, Ferraria A, et al. PARK6 is a common cause of familial parkinsonism. Ann Neurol 2001; (in press).
74. Valente EM, Bentivoglio AR, Cassetta E, et al. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurol Sci 2001;22:95-96.
75. Farrer M, Destee T, Becquet E, et al. Linkage exclusion in French families with probable Parkinson's disease. Mov Disord 2000;15:1075-1083.
76. Gwinn-Hardy KA, Crook R, Lincoln S, et al. A kindred with Parkinson's disease not showing genetic linkage to established loci. Neurology 2000;54:504-507.
77. Scott WK, Nance MA, Watts RL, et al. Complete genomic screen in Parkinson's disease: evidence for multiple genes. JAMA 2001;286:2239-2244.
78. DeStefano AL, Golbe Li, Mark MH, et al. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology 2001;25:1124-1126.
79. Martin ER, Scott WK, Nance MA, et al. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson's disease. JAMA 2001;286:2245-2250.
80. Baker M, Litvan I, Houlden H, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999;8:711-715.
81. Lee LV, Pascacio FM, Fuentes FD, Viterbo GH. Torsion dystonia in Panay, Philippines. Adv Neurol 1976;14:137-151.
82. Lee LV, Kupke KG, Caballar-Gonzaga F, et al. The phenotype of the X-linked dystonia-parkinsonism syndrome - an assessment of 42 cases in the Philippines. Medicine 1991;70:179-187.
83. Waters CH, Faust PL, Powers J, et al. Neuropathology of Lubag (X-linked dystonia parkinsonism). Mov Disord 1993;8:387-389.
84. Evidente V, Gwinn-Hardy K, Hardy J, Singleton AB. X-linked dystonia (Lubag) presenting with parkinsonism: a more benign phenotype? Mov Disord (in press).
85. Evidente V, Advincula J, Esteban R et al. A cinematographic review of the phenomenology of X-linked dystonia-parkinsonism (Lubag). Mov Disord (in press).
86. Wilhelmsen KC, Weeks DE, Nygaard TG, et al. Genetic mapping of Lubag (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. Ann Neurol 1991;29:124-131.
87. Haberhausen G, Schmitt I, Kohler A, et al. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am J Hum Genet 1995;57:644-650.
88. Muller U, Haberhausen G, Wagner T, et al. DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). Genomics 1994;23:114-117.
89. Wilhelmsen KC, Moskowitz CB, Weeks DE, et al. Molecular genetic analysis of Lubag. Adv Neurol 1998;78:341-348.
90. Brewer GJ, Yuzbasiyan-Gurkan V. Wilson's disease. Medicine 1992;71:139.
91. Rathburn JK. Neuropsychological aspects of Wilson's disease. Int J Neurosci 1996;85:221-229.
92. Bowcock AM, Farrer LA, Cavalli-Sforza LL, et al. Mapping the Wilson's disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet 1987;41:27.
93. Shah AB, Chernov I, Zhang HT. et al. Identification and analysis of mutations in the Wilson's diseases gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997;61:317-328.
94. Racette BA, Perlmutter JS. Levodopa-responsive parkinsonism in an adult with Huntington's disease. Neurol Neurosurg Psychiatry 1998;65:577-579.
95. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;26:72: 971-983.
96. Tuite PJ, Rogaeva EA, St. George-Hyslop PH, Lang AE. Doparesponsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 1995;38:684-687.
97. Gwinn-Hardy K, Singleton A, O'Suilleabhain P, et al. Spinocerebellar ataxia type 3 phenotypically resembling Parkinson's disease in a black family. Arch Neurol 2001;58:296-299.
98. Gwinn-Hardy K, Chen JY, Liu HC, et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000;55:800-805.
99. Subramony SH, Currier RD. Intrafamilial variability in Machado-Joseph disease. Mov Disord 1996;11:741-743.
100. Evidente VGH, Gwinn-Hardy KA, Gilman S. Hereditary spinocerebellar ataxias: a clinicogenetic review. Mayo Clin Proc 2000;75:475-490.
101. Stevanin G, Cancel G, Durr A, et al. The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of ∼3 cM on chromosome 14q24.3-q32.2. Am J Hum Genet 1995;56:193-201.
102. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-303.
103. Twist EC, Casabon LK, Ruttledge MH, et al. Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 1995;32:25-31.
104. Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812.
105. Gispert S, T wells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
106. Geschwind DH, Perlman S, Figueroa CP, et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-850.
107. Wszolek ZK, Pfeiffer RF, Bhatt MH, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 1992;32:312-320.
108. Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-1884.
109. Wilhelmsen KC, Lynch T, Pavlou E, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165.
110. Foster NL, Wilhelmsen K, Sima AA, et al. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997;41:706-715.
111. Wijker M, Wszolek ZK, Wolters EC, et al. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996;5:151-154.
112. Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 1998;95:7737-7741.
113. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
114. Spillantini MG, Crowther RA, Kamphorst W, et al. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 1998;153:1359-1363.
115. Daniel SE, de Bruin VM, Lees AJ. The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal. Brain 1995;118:759-770.
116. Boeve BF, Maraganore DM, Parisi JE, et al. Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology 1999;53:795-800.
117. Conrad C, Andreadis A, Trojanowski JQ, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997;41:277-281.
118. Houlden H, Baker M, Morris HR, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001;56:1702-1706.
119. Morris HR, Janssen JC, Bandmann O, et al. The tau gene AO polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. JNNP 1999;66:665-667.
120. de Yebenes JG, Sarasa JL, Daniel SE, Lees AJ. Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. Brain 1995;118:1095-1103.
121. Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000;123:857-859.
122. Pastor P, Pastor E, Carnero C, et al. Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene. Ann Neurol 2001;49:263-267.
123. Rojo A, Pernaute RS, Fontan A, et al. Clinical genetics of familial progressive supranuclear palsy. Brain 1999;122:1233-1245.
124. 18F]dopa PET. J Neurol Neurosurg Psychiatry 1998;64:314-319.
125. Hardy J. Amyloid, the presenilins, and Alzheimer's disease. Trends Neurosci 1997;20:154-159.
126. McKeith IG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 1996;47:1113-1124.
127. Trojanowski JQ, Lee VM. Parkinson's disease and related neurodegenerative synucleinopathies linked to progressive accumulations of synuclein aggregates in brain. Parkinsonism Relat Disord 2001;7:247-251.
128. Nakayama KI, Hatakeyama S, Nakayama K. Regulation of the cell cycle at the G1-S transition by proteolysis of cyclin E and p27Kipl. Biochem Biophys Res Comm 2001;282:853-860.
129. Schmitt HP, Emser W, Heimes C. Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia. Ann Neurol 1984;16:642-648.
130. 18F]dopa positron emission tomography studies in an Irish kindred. Ann Neurol 1992;32:609-617.
131. Bhatia KP, Daniel SE, Marsden CD. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 1993;34:842-847.
132. Hasegawa K, Kowa H. Autosomal dominant familial Parkinson's disease: older onset of age, and good response to levodopa therapy. Eur Neurol 1997;38 Suppl 1:39-13.
133. Sutton JP, Pulst SM. Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. Neurology 1997;48:1285-1290.
134. Vellely A, Tetu M. A familial cluster of Parkinson's disease identified in Milne Bay Province, Papua New Guinea. PNG Med J 1999;42:27-31.
135. Wakabayashi K, Hayashi S, Ishikawa A, et al. Autosomal dominant diffuse Lewy body disease. Acta Neuropathol 1998;96:207-210.
136. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976;26:703-714.
137. Ohara K, Takauchi S, Kokai M, et al. Familial dementia with Lewy bodies (DLB). Clin Neuropathol 1999;18:232-239.
138. Martinelli P, Giuliani S, Ippoliti M, et al. Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome. Mov Disord 1993;8:220-222.
139. Purdy A, Hahn A, Barnett HJ, et al. Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol 1979;6:523-531.
140. Irizarry MC, Growdon W, Gomez-Isla T, et al. DLB and Lewy bodies with synuclein nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain α-synuclein immunoreactivity. J Neuropathol Exp Neurol 1998;57:334-337.
141. Lippa CF, Fujiwara H, Mann DMA, et al. Lewy bodies contain altered α-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol 1998;153:1365-1370.
142. Lippa CF, Schmidt ML, Lee VM, Trojanowski JQ. Antibodies to α-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease. Ann Neurol 1999;45:353-357.
143. Morris HR, Vaughan JR, Datta SR, et al. Multiple system atrophy/progressive supranuclear palsy: α-synuclein, synphilin, tau, and APOE. Neurology 2000;55:1918-1920.
144. Wakabayashi K, Fukushima T, Koide R, et al. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and Lewy body pathology. Acta Neuropathol 2000;99:331-336.
145. Galvin JE, Giasson B, Hurtig HI, et al. Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology. Am J Pathol 2000;157:361-368.
146. Arawaka S, Saito Y, Murayama S, Mori H. Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for α-synuclein. Neurology 1998;51:887-889.