Reduced expression of the G209A α-synuclein allele in familial parkinsonism

Annals of Neurology

Volumn 46, Issue 3, 1999, Pages 374-381

  Markopoulou, Katerina ^a,b   Wszolek, Zbigniew K ^b   Pfeiffer, Ronald F ^c   Chase, Bruce A ^a  

^a UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 4Q; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION REGULATION; GENE LOCATION; GENETIC LINKAGE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ALLELES; ALPHA-SYNUCLEIN; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNUCLEINS;

EID: 0032835781     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199909)46:3<374::AID-ANA13>3.0.CO;2-9     Document Type: Article

References (47)

1. Duvoisin RC. The genetics of Parkinson's disease: a review. Adv Neurol 1993;60:306-315
2. Wilhelmsen KC, Wszolek ZK. Is there a genetic susceptibility to idiopathic parkinsonism? Parkinson Related Disord 1995;1: 73-84
3. Denson MA, Wszolek ZK. Familial parkinsonism: our experience and review. Parkinson Related Disord 1995;1:35-46
4. Wszolek ZK, Pfeiffer RF. Hereditofamilial parkinsonian syndromes. In: Watts RL, Koller WC eds. Movement disorders. New York: McGraw-Hill, 1997;351-363.
5. Maranganore DM, Harding AE, Marsden CD. A clinical and genetic study of familial Parkinson's disease. Mov Disord 1991; 6:205-211
6. 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
7. Gasser T, Müller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18:262-265
8. 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
9. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:491-492
10. 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
11. Krüger R, Kuhn W, Müller T, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108
12. Maroteaux L, Campanelli JT, Scheller RH. Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal. J Neurosci 1988;8:2804-2815
13. George GM, Jin H, Woods WS, Clayton DF. Characterization of a novel protein regulated during the critical period for song learning in the zebra finch. Neuron 1995;15:361-372
14. Maroteaux L, Scheller RH. The rat brain synucleins; family of proteins transiently associated with the neuronal membrane. Mol Brain Res 1991;11:335-343
15. Ueda K, Fukushima H, Masliah E, et al. Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer's disease. Proc Nat Acad Sci USA 1993;90:11282-11286
16. Campion D, Martin C, Heilig R, et al. The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer's disease. Genomics 1995;26:254-257
17. Iwai A, Masliah E, Sundsmo MP, et al. The synaptic protein NACP is abnormally expressed during the progression of Alzheimer's disease. Brain Res 1996;720:230-234
18. Spillantini MG, Schmidt ML, Lee VM-Y, et al. α-Synuclein in Lewy bodies. Nature 1997;388:839-840
19. Munoz E, Oliva R, Obach V, et al. Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients. Neurosci Lett 1997;235:57-60
20. Zareparsi S, Kay J, Camicioli, et al. Analysis of the α-synuclein G209A mutation in familial Parkinson's disease. Lancet 1998; 351:37-38
21. Chan P, Tanner CM, Jiang X, Langston JW. Failure to find the α-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease. Neurology 1998;50: 513-514
22. Vaughan JR, Farrer MJ, Wszolek ZK, and the European Consortium on genetic susceptibility in Parkinson's Disease. Hum Mol Genet 1998;7:751-753
23. Markopoulou K, Wzsolek ZK, Pfeiffer RF. A Greek-American family with levodopa responsive autosomal dominant parkinsonism and anticipation. Ann Neurol 1995;38:373-378
24. Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 1989;44:543-551
25. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36: 460-465
26. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498
27. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory, 1989
28. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159
29. Schalling M, Hudson TJ, Buetow K, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;4:135-139
30. Wijker M, Wszolek ZK, Wolters ECH, 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
31. Wilhelmsen KC, Lynch T, Pavlou E, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1164
32. Foster NL, Wilhelmsen KC, Sima AAF, and Conference Participants. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997;41: 706-715
33. Matsumine H, Saito M, Shimoda-Matsuyabashi 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
34. Paulson HL, Fischbeck KH. Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 1996;19:79-107
35. Muller HJ. Further studies on the nature and causes of gene mutations. Proceedings of the 6th International Congress of Genetics, 1932;213-255
36. Demerec M. The nature of changes in the white-Notch region of the X-chromosome of Drosophila melanogaster. Proceedings of the 7th International Congress of Genetics, 1939:99-103
37. Artavanis-Tsakonas S, Matsuno K, Fortini M. Notch signaling. Science 1995;268:225-232
38. Wilkie AOM. The molecular basis of genetic dominance. J Med Genet 1994;31:89-98
39. Fisher E, Scambler P. Human haploinsufficiency - one for sorrow, two for joy. Nat Genet 1994;7:5-7
40. Kholodilov NG, Oo TF, Burke RE. Analysis of synuclein-1 expression in a model of programmed cell death in dopamine neurons of substantia nigra induced by destruction of terminals with 6-hydroxydopamine. Mov Disord 1998;13(Suppl 2):217 (Abstract)
41. Golbe LI, Di Iorio C, Bonavita V, et al. A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 1990;27: 276-282
42. Golbe LI, Di Iorio G, Sanges G, et al. Clinical genetic analysis of Parkinson's disease in the Contoursi kindred. Ann Neurol 1996;40:767-775
43. Lynch T. Genetics of Parkinson's disease. Science 1998;278: 1212-1213
44. Polymeropoulos MH. Genetics of Parkinson's disease, response. Science 1998;278:1213 (Comment)
45. Jensen PH, Nielsen MS, Jakes R, et al. Binding of α-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation. J Biol Chem 1998;273:26292-26294
46. Conway KA, Harper JD, Lansbury PT. Accelerated in vitro fibril formation by mutant α-synuclein linked to early onset Parkinson's disease. Nat Med 1998;4:1318-1320
47. Bennett MC, Bishop JF, Leng Y, et al. Degradation of α-synuclein by the ubiquitin-proteasome proteolytic pathway. Soc Neurosci 1998;24:967 (Abstract)