A clinical genetic study of parkinson’s disease: Evidence for dominant transmission

Neurology

Volumn 44, Issue 3, 1994, Pages 499-506

  Lazzarini, Alice M ^a   Zimmerman, T R ^a   Mark, M H ^a   Golbe, L I ^a   Sage, J I ^a   Johnson, W G ^a   Duvoisin, R C ^a   Myers, R H ^b  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FAMILIAL DISEASE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; PEDIGREE;

EID: 0028331444     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.44.3_part_1.499     Document Type: Article

References (60)

1. Mjones H. Paralysis agitans. A clinical genetic study. Acta Psychiatr Neurol 1949;25(suppl 54):1-195.
2. Duvoisin R, Gearing F, Schweitzer M, Yahr M. A family study of parkinsonism. In: Barbeau A, Brunette JR, eds. Progress in neurogenetics, vol 1. Amsterdam: Excerpta Medica, 1969:492-496.
3. Marttila RJ, Rinne UK. Arteriosclerosis, heredity, and some previous infections in the etiology of Parkinson’s disease. A case-control study. Clin Neurol Neurosurg 1981;71:46-56.
4. Martin WE, Young WI, Anderson VE. Parkinson’s disease. A genetic study. Brain 1973;96:495-506.
5. Kondo K, Kurland LT. Parkinson’s disease. Genetic analysis and evidence of a multifactorial etiology. Mayo Clin Proc 1973;48:465-474.
6. Kondo K, Sobue I. Genetic and clinical patterns of heritable cerebellar ataxias in adults. I. Genetic analysis. J Med Genet 1980;17:416-423.
7. Lazzarini A, Zimmerman TR Jr, Johnson WG, Duvoisin RC. A 17th century founder gives rise to large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6. Neurology 1992;42:2118-2124.
8. Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population inHolguin, Cuba. Neurology 1990;40:1369-1375.
9. Duvoisin RC, Eldridge R, Williams A, Nutt J, Caine DB. Twin study of Parkinson disease. Neurology 1981;31:77-80.
10. Ward CD, Duvoisin RC, Ince SE, Nutt JD, Eldridge R, Caine DB. Parkinson’s disease in 65 pairs of twins and in a set of quadruplets. Neurology 1983;33:815-824.
11. Duvoisin RC. On heredity, twins, and Parkinson’s disease. Ann Neurol 1986;19:409-411.
12. Johnson WG, Hodge SE, Duvoisin RC. Twin studies and the genetics of Parkinson’s disease. Mov Disord 1990;5:187-194.
13. Duvoisin RC. The genetics of Parkinson’s disease: a review. In: Rinne UK, Nagatsu T, Horowski R, eds. International Workshop Berlin: Parkinson’s Disease. Bussum, The Netherlands: Medicom, 1991:38-57.
14. Zimmerman TR Jr, Bhatt M, Caine DB, Duvoisin RC. Parkinson’s disease in monozygotic twins: a follow-up [abstract]. Neurology 1991;41(suppl 1):255.
15. 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.
16. Brooks DJ, Playford ED, Ibanez V, et al. Isolated tremor and disruption of the nigrostriatal dopaminergic system: an 18F- dopa PET study. Neurology 1992;42:1554-1560.
17. Johnson WG. Genetic susceptibility to Parkinson’s disease. Neurology 1991;41 21:82-87.
18. 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.
19. Degl’Innocenti F, Maurello MT, Marini P. A Parkinson kindred. Ital J Neurol Sci 1989;10:307-310.
20. Mark MH, Dickson DW. The spectrum of Lewy body disease [abstract]. Ann Clin Lab Sci 1992;22:270.
21. Mauri JA, Asensio M, Jimenez A, Huerta JR, Redondo MJ, del Villar V. Enfermedad de Parkinson familiar. Neurologia 1990;5:45-47.
22. Muenter MD, Howard FM, Okazaki H. A familial parkinson- dementia syndrome [abstract]. Neurology 1986;36(11):1-15.
23. Spellman GG. Report of familial cases of parkinsonism. JAMA 1962;179:160-162.
24. Wszolek ZK, Cordes M, Lee C, et al. Three families with dominantly inherited parkinsonism [abstract], Ann Neurol 1992;32:276.
25. Maraganore DM, Harding AE, Marsden CD. A clinical and genetic study of familial Parkinson’s disease. Mov Disord 1991;6:205-211.
26. Ward CD, Gibb WR. Research diagnosis criteria for Parkinson’s disease. Adv Neurol 1990;53:245-249.
27. Kaplan EL, Meier P. Non-parametric estimation from incomplete observations. J Am Stat Assoc 1958;53:457-481.
28. Chase GA, Folstein MF, Breitner JCS, Beaty TH, Self SC. The use of life tables and survival analysis in testing genetic hypotheses, with an application to Alzheimer’s disease. Am J Epidemiol 1983;117:590-597.
29. Statistical Analysis System. STAT user’s guide: basics (version 6 ed). Cary, NC: SAS Institute, 1990:1027-1070.
30. Kalbfleisch JD, Prentice RL. The statistical analysis of failure time data. New York: John Wiley, 1980.
31. Morton NE. Genetic tests under incomplete ascertainment. Am J Hum Genet 1959;2:1-16.
32. Golbe LI, Di Iorio G, Lazzarini AM, Bonavita V, Duvoisin RC. A large kindred with Parkinson’s disease (PD): onset age, segregation ratios and anticipation [abstract], Mov Disord 1993,8:406.
33. Emery A. Methodology in medical genetics. New York: Churchill Livingstone, 1976:48-49.
34. Slater E. Expectation of abnormality on paternal and maternal sides: a computational model. J Med Genet 1966;3:159-161.
35. Slater E, Tsuang MT. Abnormality on paternal and maternal sides: observations in schizophrenia and manic-depres- sion. J Med Genet 1968;5:197-199.
36. Kurland LT. Epidemiology: incidence, geographic distribution and genetic considerations. In: Fields WS, ed. Pathogenesis and treatment of parkinsonism. Springfield, IL: Charles C. Thomas, 1955:4-49.
37. Campanella G, Idone M, De Michele G, Filla A. Paternal preponderance in familial Parkinson’s disease. Neurology 1984;34:1398-1400.
38. Breitner JCS, Silverman JM, Mohs RC, Davis KL. Familial aggregation in Alzheimer’s disease: comparison of risk among relatives of early- and late-onset cases, and among male and female relatives in successive generations. Neurology 1988;38:207-212.
39. Sage JI, Miller DC, Golbe LI, Walters A, Duvoisin RC. Clinically atypical expression of pathologically typical Lewy- body parkinsonism. Clin Neuropharmacol 1990;13:36-47.
40. Barbeau A, Roy M. Familial subsets in idiopathic Parkinson’s disease. Can J Neurol Sci 1984;11:144-150.
41. Tanner CM, Langston JW. Do environmental toxins cause Parkinson’s disease? A critical review. Neurology 1990;40(suppl 3):17-30.
42. Farrer LA, Myers RH, Connor L, Cupples LA, Growdon JH. Segregation analysis reveals evidence of a major gene for Alzheimer disease. Am J Hum Genet 1991;48:1026-1033.
43. Spielman RS, Nussbaum RL. Dual developments in diabetes. Nature Genet 1992;1:82-83.
44. Hall JM, Friedman L, Guenther C, et al. Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet 1992;50:1235-1242.
45. Sellers TA, Potter JD, Bailey-Wilson JE, Rich SS, Rothschild H, Elston RC. Lung cancer detection and prevention: evidence for an interaction between smoking and genetic predisposition. Cancer Res 1992;52:2694s-2697s.
46. Caine S, Schoenberg B, Martin W, Uitti RJ, Spencer P, Caine DB. Familial Parkinson’s disease: possible role of environmental factors. Can J Neurol Sci 1987;14:303-305.
47. Pratt RTC. The genetics of neurological disorders. London: Oxford Press, 1967:57-59.
48. Young WI, Martin WE, Anderson VE. The distribution of ancestral secondary cases in Parkinson’s disease. Clin Genet 1977;11:189-192.
49. Kahler SG, Riley E. Letter to the editors. Clin Genet 1979;15:110-111.
50. Cantor RM, Rotter JI. Analysis of genetic data: methods and interpretation. In: King RA, Rotter JI, Motulsky AG, eds. The genetic basis of common diseases. New York: Oxford Press, 1992:49-70.
51. Kurland LT, Mulder DW, Epidemiologic investigation of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance II. Neurology 1955;5:249-268.
52. Conneally M. A first step toward molecular genetic analysis of amyotrophic lateral sclerosis. N Engl J Med 1991;342:1430-1432.
53. St. George-Hyslop PH, Tanzi RE, Polinsky RJ, et al. The genetic defect causing familial Alzheimer’s disease maps on chromosome 21. Science 1987;235:885-890.
54. Pericak-Vance MA, Bebout JS, Gaskell PC, et al. Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 1991;48:1034-1050.
55. Sehellenberg GD, Bird TD, Wijsman EM, et al. Genetic linkage evidence for a familial Alzheimer’s disease locus on chromosome 14. Science 1992;258:668-671.
56. St. George-Hyslop PH, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer’s disease locus on chromosome 14. Nature Genet 1992;2:330-334.
57. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
58. Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051.
59. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late-onset families. Science 1993;261:921-923.
60. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele e4 with late-onset familial and sporadic Alzheimer’s disease. Neurology 1993;43:1467-1472.