The Identification of Alpha-Synuclein as the First Parkinson Disease Gene

Journal of Parkinson's Disease

Volumn 7, Issue s1, 2017, Pages S45-S51

  Nussbaum, Robert L ^a  

^a Invitae   (United States)

Author keywords

Alpha synuclein; gene mapping; hereditary Parkinson disease; positional cloning

Indexed keywords

ALPHA SYNUCLEIN;

ALPHA SYNUCLEIN GENE; BASE PAIRING; CHROMOSOME 4; CLONING; DISEASE PREDISPOSITION; EXON; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENOME-WIDE ASSOCIATION STUDY; HUMAN; LEWY BODY; NONHUMAN; PARKINSON DISEASE; PATHOGENICITY; REVIEW; GENETICS; HISTORY; MEDICAL RESEARCH;

ALPHA-SYNUCLEIN; BIOMEDICAL RESEARCH; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; PARKINSON DISEASE;

EID: 85015213830     PISSN: 18777171     EISSN: 1877718X     Source Type: Journal    
DOI: 10.3233/JPD-179003     Document Type: Review

References (40)

1. Cotzias GC, Papavasiliou PS, & Gellene R (1968) Experimental treatment of parkinsonism with L-Dopa. Neurology, 18(3), 276-277.
2. Cotzias GC (1968) L-Dopa for Parkinsonism.NEngl J Med, 278(11), 630.
3. Kerem B, et al. (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science, 245(4922), 1073-1080.
4. Duvoisin RC (1984) Is Parkinson's disease acquired or inherited? Can J Neurol Sci 11(Suppl 1), 151-155.
5. Duvoisin RC (1987) Genetics of Parkinson's disease. Adv Neurol, 45, 307-312.
6. Johnson WG, Hodge SE, & Duvoisin R (1990) Twin studies and the genetics of Parkinson's disease-a reappraisal. Mov Disord, 5(3), 187-194.
7. Burn DJ, et al. (1992) Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurol, 42, 1894-1900.
8. Johnson WG, Hodge SE, & Duvoisin R (1990) Twin studies and the genetics of Parkinson's disease-a reappraisal. Movement Disorders, 5, 187-194.
9. Wszolek ZK, et al. (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurol, 45, 502-505.
10. Golbe LI, et al. (1990) A large kindred with autosomal dominant Parkinson's disease. Ann Neurol, 27(3), 276-282.
11. Golbe LI, et al. (1999) The Contursi kindred, a large family with autosomal dominant Parkinson's disease: Implications of clinical and molecular studies. Adv Neurol, 80, 165-170.
12. Polymeropoulos MH, et al. (1996) Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science, 274, 1197-1199.
13. Gusella JF (1984) Genetic linkage of the Huntington's disease gene to a DNA marker. CAn J Neurol Sci, 11(4), 421-425.
14. Group THsDCR (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell, 72(6), 971-983.
15. Lavedan C, et al. (1998) Contig map of the Parkinson's disease region on 4q21-q23. DNA Res, 5(1), 19-23.
16. Ueda K, et al. (1993) Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc Natl Acad Sci U S A, 90, 11282-11286.
17. Spillantini MG, Divane A, & Goedert M (1995) Assignment of Human a-Synuclein (SNCA) and B-Synuclein (SNCB) Genes to Chromosome 4q21 and 5q35. Genomics, 27, 379-381.
18. Polymeropoulos MH, et al. (1997) Mutation in the alphasynuclein gene identified in families with Parkinson's disease. Science, 276(5321), 2045-2047.
19. Kruger R, et al. (1998) Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nature Genetics, 18, 106-108.
20. Devine MJ, et al. (2011) Parkinson's disease and alphasynuclein expression. Mov Disord, 26(12), 2160-2168.
21. Farrer M, et al. (1998) Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Ann Neurol, 43(3), 394-397.
22. Chan P, et al. (1998) Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease. Neurology, 50(2), 513-514.
23. Zareparsi S, et al. (1998) Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease. Lancet, 351(9095), 37-38.
24. Munoz E, et al. (1997) Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients. Neurosci Lett, 235(1-2), 57-60.
25. Athanassiadou A, et al. (1999) Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Hum Genet, 65(2), 555-558.
26. Zarranz JJ, et al. (2004) The new mutation: E46K, of alphasynuclein causes Parkinson and Lewy body dementia. Ann Neurol, 55(2), 164-173.
27. Konno T, et al. (2016), Autosomal dominant Parkinson's disease caused by SNCA duplications. Parkinsonism Relat Disord, 22(Suppl 1), S1-S6.
28. Petrucci S, Ginevrino M, & Valente EM (2016) Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models. Parkinsonism Relat Disord, 22(Suppl 1), S16-S20.
29. Nalls MA, et al. (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet, 46(9), 989-993.
30. Soldner F, et al. (2016) Parkinson-associated risk variant in distal enhancer of alpha-synuclein modulates target gene expression. Nature, 533(7601), 95-99.
31. Braak H, et al. (2004) Stages in the development of Parkinson's disease-related pathology. Cell Tissue Res, 318(1), 121-134.
32. Braak H, & Del Tredici K (2009) Neuroanatomy and pathology of sporadic Parkinson's disease. Adv Anat Embryol Cell Biol, 201, 1-119.
33. Chen H, et al. (2013) Research on the premotor symptoms of Parkinson's disease: Clinical and etiological implications. Environ Health Perspect, 121(11-12), 1245-1252.
34. Sidransky E, et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med, 361(17), 1651-1661.
35. Fishbein I, et al. (2014) Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain, 137(Pt 12), 3235-3247.
36. Mazzulli JR, et al. (2011) Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell, 146(1), 37-52.
37. Kuo YM, et al. (2010) Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Hum Mol Genet, 19(9), 1633-1650.
38. Volpicelli-Daley LA, Luk KC, & Lee VM (2014) Addition of exogenous alpha-synuclein preformed fibrils to primary neuronal cultures to seed recruitment of endogenous alphasynuclein to Lewy body and Lewy neurite-like aggregates. Nat Protoc, 9(9), 2135-2146.
39. Luk KC, et al. (2012) Intracerebral inoculation of pathological alpha-synuclein initiates a rapidly progressive neurodegenerative alpha-synucleinopathy in mice. J Exp Med, 209(5), 975-986.
40. Goodman RM (1966) Rare diseases in internal medicine. Arch Intern Med, 118(3), 294-295.