Pet studies of parkinsonism associated with mutation in the α-synuclein gene

Neurology

Volumn 53, Issue 9, 1999, Pages 2097-2102

  Samii, A ^a   Markopoulou, K ^b   Wszolek, Z K ^c   Sossi, V ^a   Dobko, T ^a   Mak, E ^d   Calne, D B ^a   Stoessl, A Jon ^a  

^a VANCOUVER HOSPITAL AND HEALTH SCIENCES CENTRE   (Canada)

^b UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^c MAYO CLINIC   (United States)

^d Purdy Pavilion ^*

Author keywords

Fluorodopa; PD; Positron emission tomography; Raclopride; Synuclein

Indexed keywords

DOPAMINE 2 RECEPTOR; LEVODOPA; RACLOPRIDE;

ADULT; ARTICLE; CAUDATE NUCLEUS; CONTROLLED STUDY; DOPAMINERGIC SYSTEM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; NIGRONEOSTRIATAL SYSTEM; PARKINSONISM; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PUTAMEN; RECEPTOR BINDING;

EID: 0032796303     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.9.2097     Document Type: Article

References (45)

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. 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.
3. Gowers WR. Paralysis agitans. In: Gowers WR, ed. A manual of diseases of the nervous system. Philadelphia: P. Blakiston, Son & Co., 1896:636-657.
4. Mjones H. Paralysis agitans. A clinical genetic study. Acta Psychiatr Neurol 1949;25(suppl 54):1-195.
5. Ward CD, Duvoisin RC, Ince SE, Nutt JD, Eldridge R, Calne DB. Parkinson's disease in 65 pairs of twins and in a set of quadruplets. Neurology 1983;33:815-824.
6. Marsden CD. Parkinson's disease in twins. J Neurol Neurosurg Psychiatry 1987;50:105-106.
7. Marttila RJ, Kaprio J, Koskenvuo M, Rinne UK. Parkinson's disease in a nationwide twin cohort. Neurology 1988;38:1217-1219.
8. Johnson WG, Hodge SE, Duvoisin R. Twin studies and the genetics of Parkinson's disease - a reappraisal. Mov Disord 1990;5:187-194.
9. Tanner CM, Ottman R, Goldman SM, et al. Parkinson disease in twins: an etiologic study. JAMA 1999;281:341-346.
10. Maraganore DM, Harding AE, Marsden CD. A clinical and genetic study of familial Parkinson's disease. Mov Disord 1991;6:205-211.
11. Payami H, Larsen K, Bernard S, Nutt J. Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol 1994;36:659-661.
12. Calne S, Schoenberg B, Martin W, Uitti RJ, Spencer P, Calne DB. Familial Parkinson's disease: possible role of environmental factors. Can J Neurol Sci 1987;14:303-305.
13. Langston JW, Ballard P, Tetrud JW, Irwin I. Chronic parkinsonism in humans due to a product of meperidine analog synthesis. Science 1983;219:979-980.
14. Barbeau A, Roy M. Familial subsets in idiopathic Parkinson's disease. Can J Neurol Sci 1984;11:144-150.
15. Roy EPI, Riggs JE, Martin JD, Ringel RA, Gutmann L. Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. Neurology 1988;38: 637-639.
16. Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC. A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 1990;27:276-282.
17. 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.
18. Bhatia KP, Daniel SE, Marsden CD. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 1993; 34:842-847.
19. 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.
20. Waters CH, Miller CA. Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 1994;35: 59-64.
21. Markopoulou K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995;38:373-378.
22. Golbe LI, Di Iorio G, Sanges G, et al. Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 1996;40:767-775.
23. Martin WRW, Palmer MR, Patlak CS, Calne DB. Nigrostriatal function in humans studied with positron emission tomography. Ann Neurol 1989;26:535-542.
24. Snow BJ, Tooyama I, McGeer EG, et al. Human positron emission tomographic [18F] fluorodopa studies correlate with dopamine cell counts and levels. Ann Neurol 1993;34:324-330.
25. Vingerhoets FJG, Snow BJ, Lee CS, Schulzer M, Mak E, Calne DB. Longitudinal fluorodopa PET studies of the evolution of idiopathic parkinsonism. Ann Neurol 1994;36:759-764.
26. Morrish PK, Sawle GV, Brooks DJ. An [18F] dopa-PET and clinical study of the rate of progression in Parkinson's disease. Brain 1996;119:585-591.
27. Brooks DJ, Ibanez V, Sawle GV, et al. Striatal D2 receptor status in patients with Parkinson's disease, striatonigral degeneration, and progressive supranuclear palsy, measured with 11C-raclopride and positron emission tomography. Ann Neurol 1992;31:184-192.
28. Antonini A, Schwarz J, Oertel WH, Beer HF, Madeja UD, Leenders KL. [11C] raclopride and positron emission tomography in previously untreated patients with Parkinson's disease: influence of L-dopa and lisuride therapy on striatal dopamine D2-receptors. Neurology 1994;44:1325-1329.
29. Burn DJ, Mark MH, Playford ED, et al. Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurology 1992;42:1894-1900.
30. Kishore A, Wszolek ZK, Snow BJ, et al. Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family. Neurology 1996;47:1588-1590.
31. Farm S, Elton RL, members of the UPDRS Development Committee. Unified Parkinson Disease Rating Scale. In: Fahn S, Marsden CD, Goldstein M, eds. Recent developments in Parkinson's disease II. New York: Macmillan Publishing, 1987: 153-163.
32. Langston JW, Widner H, Goetz CG, et al. Core Assessment Program for Intracerebral Transplantations (CAPIT). Mov Disord 1992;7:2-13.
33. 11C]raclopride studies. J Cereb Blood Flow Metab 1996;16:42-52.
34. Vingerhoets FJG, Schulzer M, Ruth TJ, Holden JE, Snow BJ. Reproducibility and discriminating ability of fluorine 18-6-fluoro-L-dopa PET in Parkinson's disease. J Nucl Med 1996; 37:421-426.
35. Brooks DJ, Ibanez V, Sawle GV, et al. Differing patterns of striatal 18F-dopa uptake in Parkinson's disease, multiple systems atrophy and progressive supranuclear palsy. Ann Neurol 1990;28:547-555.
36. Rinne JO, Laihinen A, Rinne UK, Nagren K, Bergman J, Ruotsalainen U. PET study on striatal dopamine D2 receptor changes during the progression of early Parkinson's disease. Mov Disord 1993;8:134-138.
37. 11C]raclopride. Mov Disord 1997;12:33-38.
38. Polymeropoulos MH, Higgins JJ, Golbe LI, et al. Mapping of a gene for Parkinson's disease to chromosome 4q21-23. Science 1996;274:1197-1199.
39. The French Parkinson's Disease Genetics Study Group. Alpha-synuclein gene and Parkinson's disease. Science 1998; 279:1116-1117.
40. Farrer M, Wavrant-De Vrieze F, Crook R, et al. Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Ann Neurol 1998;43:394-397.
41. Zareparsi S, Kay J, Camicioli R, et al. Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease. Lancet 1998;351:37-38.
42. Chan P, Tanner CM, Jiang X, Langston JW. Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease. Neurology 1998;50:513-514.
43. Vaughan J, Durr A, Tassin J, et al. The α-synuclein mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. Ann Neurol 1998;44:270-273.
44. Krüger 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.
45. 18F-dopa positron emission tomography study. Ann Neurol 1997;41: 222-229.