The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

Annals of Neurology

Volumn 44, Issue 2, 1998, Pages 270-273

  Vaughan, Jenny ^a   Durr, Alexandra ^b   Tassin, Johann ^b   Bereznai, Benjamin ^c   Gasser, Thomas ^c   Bonifati, Vincenzo ^d   De Michele, Giuseppe ^e   Fabrizio, Edito ^d   Volpe, Gianpiero ^e   Bandmann, O ^a   Johnson, William G ^f   Golbe, Lawrence I ^f   Breteler, Monique ^g   Meco, Giuseppe ^d   Agid, Yves ^b   Brice, Alexis ^b   Marsden, C David ^a   Wood, Nicholas W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INSERM   (France)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DISEASE CLASSIFICATION; EUROPE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ALPHA-SYNUCLEIN; DNA; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; SYNUCLEINS;

EID: 15444338952     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440221     Document Type: Article

References (18)

1. Mutch WJ, Dingwall-Fordyce I, Downie AW, Paterson JG. Parkinson's Disease in a Scottish city. BMJ 1986;292:534-536
2. Bonifati V, Fabrizio E, Vanacore N, et al. Familial Parkinson's disease: a clinical and genetic analysis. Can J Neurol Sci 1995; 22:272-279
3. Ward CD, Duvoisin RC, Ince SE, et al. Parkinson's disease in 65 pairs of twins and in a set of quadruplets. Neurology 1983; 33:815-824
4. Marsden CD. Parkinson's disease in twins. J Neurol Neurosurg Psychiatry 1987;50:105-106
5. 18F-DOPA and positron emission tomography. Neurology 1992;42:1894-1900
6. 18F-dopa positron emission tomography study. Ann Neurol 1997;41: 222-229
7. Wszolek ZK, Pfeiffer B, Fulgham JR, et al. Western Nebraska family (family D) with autosomal dominant parkinsonism.Neurology 1995;45:82-87
8. 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
9. Smith CAD, Gough AC, Leigh PN, et al. Association between the CYP2D6-debrisoquine hydroxylase polymorphism and susceptibility to Parkinson's disease. Lancet 1992;339:1375-1377
10. Gasser T, Wszolek ZK, Troffater J, et al. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 1994;36:387-396
11. Bandmann O, Vaughan JR, Holmans P, et al. The slow acetylator genotype for N-acetyltransferase 2 is associated with familial Parkinson's disease. Lancet 1997;350:1136-1139
12. Polymeropoulos M, Higgins JJ, Golbe LI, et al. Mapping of a gene for Parkinson's disease to chromosome 4q21-23. Science 1996;274:1197-1199
13. Polymeropoulos M, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047
14. Gasser T, Muller-Myhsok B, Wszolek ZK, Durr A, et al. Genetic complexity and Parkinson's disease. Science 1997;277: 388-389
15. Maraganore D, Harding AE, Marsden CD. A clinical and genetic study of familial Parkinson's disease. Mov Disord 1991; 6:205-211
16. Spillantini MG, Schmidt ML, Lee VM-Y, et al. Alpha-synuclein in Lewy bodies. Nature 1997;388:839-840
17. Vaughan JR, Farrer MJ, Wszolek ZK, et al. Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Hum Mol Genet 1998;7:751-753
18. Maroteaux L, Scheller RH. The rat brain synucleins; family of proteins transiently associated with neuronal membrane. Mol Brain Res 1991;11:335-343