The many faces of alpha-synuclein mutations

Movement Disorders

Volumn 28, Issue 6, 2013, Pages 697-701

  Kasten, Meike ^a   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Alpha synuclein; Genetics; Parkinson

Indexed keywords

ALPHA SYNUCLEIN; LEVODOPA;

ARTICLE; DEMENTIA; DEPRESSION; DISEASE COURSE; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HALLUCINATION; HUMAN; META ANALYSIS (TOPIC); MISSENSE MUTATION; MUSCLE RIGIDITY; MYOCLONUS; MYOCLONUS EPILEPSY; NERVE CELL; ONSET AGE; OXIDATIVE STRESS; PARKINSON DISEASE; PRIORITY JOURNAL; STARTLE REFLEX; SUICIDAL IDEATION; SYSTEMATIC REVIEW; SYSTEMATIC REVIEW (TOPIC); TONIC CLONIC SEIZURE; TREATMENT RESPONSE; TREMOR;

AGE OF ONSET; ALPHA-SYNUCLEIN; ANIMALS; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION; PARKINSON DISEASE;

EID: 84879601960     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25499     Document Type: Article

References (49)

1. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
2. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M. Alpha-synuclein in Lewy bodies. Nature 1997;388:839-840.
3. Appel-Cresswell S, VilarinoGuell C, Encarnacion M, et al. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson disease. Mov Disord 2013;28:811-813.
4. Proukakis C, Dudzik CG, Brier T, et al. A novel α-synuclein missense mutation in Parkinson disease. Neurology 2013;80:1062-1064.
5. Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and other movement disorders. Curr Opin Neurol 2012;25:466-474.
6. Ishihara L, Warren L, Gibson R, et al. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol 2006;63:1250-1254.
7. Grunewald A, Kasten M, Ziegler A, Klein C. Next generation phenotyping using the parkin example: time to catch up with genetics. JAMA. In press.
8. Kruger R, Kuhn W, Muller T, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108.
9. Zarranz JJ, Alegre J, Gomez-Esteban JC, et al. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 2004;55:164-173.
10. Koziorowski D, Jurek M, Poznanski J, Hoffman-Zacharska D, Friedman A. The SNCA gene two missense mutations in Parkinson's disease [abstract]. Mov Disord 2012;27(suppl 1):1400.
11. Ahn TB, Kim SY, Kim JY, et al. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;70:43-49.
12. Lundborg HB. Medizinisch-biologische Familienforschungen innerhalb eines 2232 kopfigen Bauerngeschlechtes in Schweden. Jena, Germany: Fischer; 1913.
13. Puschmann A, Wszolek ZK, Farrer M, Gustafson L, Widner H, Nilsson C. Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus? Parkinsonism Relat Disord 2009;15:390-392.
14. Aarsland D, Kurz MW. The epidemiology of dementia associated with Parkinson disease. J Neurol Sci 2010;289(1-2):18-22.
15. Chartier-Harlin MC, Kachergus J, Roumier C, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 2004;364:1167-1169.
16. Markopoulou K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995;38:373-378.
17. Papadimitriou A, Comi GP, Hadjigeorgiou GM, et al. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 1998;51:1086-1092.
18. Markopoulou K, Wszolek ZK, Pfeiffer RF, Chase BA. Reduced expression of the G209A alpha-synuclein allele in familial Parkinsonism. Ann Neurol 1999;46:374-381.
19. Spira PJ, Sharpe DM, Halliday G, Cavanagh J, Nicholson GA. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 2001;49:313-319.
20. Bostantjopoulou S, Katsarou Z, Papadimitriou A, Veletza V, Hatzigeorgiou G, Lees A. Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation. Mov Disord 2001;16:1007-1013.
21. Papapetropoulos S, Paschalis C, Athanassiadou A, Papadimitriou A, Ellul J, Polymeropoulous MH, Papaepetropouilous T. Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease. J Neurol Neurosurg Psychiatry 2001;70:662-665.
22. Kruger 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.
23. Ibanez P, Bonnet AM, Debarges B, et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 2004;364:1169-1171.
24. Nishioka K, Hayashi S, Farrer MJ, et al. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol 2006;59:298-309.
25. Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007;68:916-922.
26. Ikeuchi T, Kakita A, Shiga A, et al. Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol 2008;65:514-519.
27. Obi T, Nishioka K, Ross OA, et al. Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. Neurology 2008;70:238-241.
28. Ross OA, Braithwaite AT, Skipper LM, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 2008;63:743-750.
29. Uchiyama T, Ikeuchi T, Ouchi Y, et al. Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication. Neurology 2008;71:1289-1291.
30. Nishioka K, Ross OA, Ishii K, et al. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord 2009;24:1811-1819.
31. Sironi F, Trotta L, Antonini A, et al. alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. Parkinsonism Relat Disord 2010;16:228-231.
32. Shin CW, Kim HJ, Park SS, Kim SY, Kim JY, Jeon BS. Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline. Mov Disord 2010;25:957-959.
33. Itokawa K, Sekine T, Funayama M, et al. A case of α-synuclein gene duplication presenting with head-shaking movements. Mov Disord 2013;28:384-387.
34. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol 1998;43:768-781.
35. Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease [serial online]. Science 2003;302:841.
36. Farrer M, Kachergus J, Forno L, et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 2004;55:174-179.
37. Sekine T, Kagaya H, Funayama M, et al. Clinical course of the first Asian family with Parkinsonism related to SNCA triplication. Mov Disord 2010;25:2871-2875.
38. Gwinn K, Devine MJ, Jin LW, et al. Clinical features, with video documentation, of the original familial Lewy body parkinsonism caused by alpha-synuclein triplication (Iowa kindred). Mov Disord 2011;26:2134-2136.
39. Kojovic M, Sheerin UM, Rubio-Agusti I, et al. Young-onset parkinsonism due to homozygous duplication of alpha-synuclein in a consanguineous family. Mov Disord 2012;27:1827-1829.
40. Miller DW, Hague SM, Clarimon J, et al. Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 2004;62:1835-1838.
41. Devine MJ, Ryten M, Vodicka P, et al. Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus[serial online]. Nat Commun 2011;2:440.
42. Byers B, Cord B, Nguyen HN, et al. SNCA triplication Parkinson's patient's iPSC-derived DA neurons accumulate alpha-synuclein and are susceptible to oxidative stress [serial online]. PLoS One 2011;6:e26159.
43. Devine MJ, Gwinn K, Singleton A, Hardy J. Parkinson's disease and alpha-synuclein expression. Mov Disord 2011;26:2160-2168.
44. Mazzuli J, Xu Y, Sun Y, et al. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011;146:37-52.
45. Sardi SP, Clarke J, Kinnecom C, et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A 2011;108:12101-12106.
46. Fuchs J, Tichopad A, Golub Y, et al. Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J 2008;22:1327-1334.
47. Lill CM, Roehr JT, McQueen MB, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database [serial online]. PLoS Genet 2012;8:e1002548.
48. Mata IF, Leverenz J, Trojanowski JQ, et al. APOE and SNCA predict cognitive performance in Parkinson's disease [abstract]. Mov Disord 2012;27(suppl 1):S26.
49. Ritz B, Rhodes SL, Bordelon Y, Bronstein J. alpha-Synuclein genetic variants predict faster motor symptom progression in idiopathic Parkinson disease [serial online]. PLoS One 2012;7: e36199.