Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations

Human Molecular Genetics

Volumn 7, Issue 4, 1998, Pages 751-753

  Vaughan, Jenny R ^a   Fairer, Matthew J ^b   Wszolek, Zbigniew K ^c   Gasser, Thomas ^d   Durr, Alexandra ^e   Agid, Yves ^e   Bonifati, Vincenzo ^f   DeMichele, Giuseppe ^g   Volpe, Gianpiero ^g   Lincoln, Sarah ^b   Breteler, Monique ^h   Meco, Giuseppe ^f   Brice, Alexis ^e   Marsden, C David ^a   Hardy, John ^b   Wood, Nicholas W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e INSERM   (France)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; MALE; ONSET AGE; OPEN READING FRAME; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ALPHA-SYNUCLEIN; ANIMALS; CERCOPITHECUS AETHIOPS; HUMANS; LINKAGE DISEQUILIBRIUM; MIDDLE AGED; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; RATS; SEQUENCE ANALYSIS; SYNUCLEINS;

EID: 6844236385     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.4.751     Document Type: Article

References (14)

1. Polymeropoulos, M., Higgins, J.J., Golbe, L.I., Johnson, W.G., Ide, S.E., Di Iorio, G., Sanges, G., Stenroos, E.S., Pho, L.T., Schaffer, A.A., Lazzarini, A.M., Nussbaum, R.L. and Duvoisin, R.C. (1996) Mapping of a gene for Parkinson's disease to chromosome 4q21-23. Science, 274, 1197-1199.
2. Polymeropoulos, M., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., Stenroos, E.S., Chandrasekharappa, S., Athanassiadou, A., Papapetropoulos, T., Johnson, W.G., Lazzarini, A.M., Duvoisin, R.C., Di Iorio, G., Golbe, L.I. and Nussbaum, R.L. (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science, 276, 2045-2047.
3. Gasser, T., Muller-Myhsok, B., Wszolek, Z.K., Durr, A., Vaughan, J.R., Bonifati, V., Meco, G., Bereznai, B., Oehlmann, R., Agid, Y, Brice, A., Wood, N.W. and the European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD) (1997) Genetic complexity and Parkinson's Disease. Science, 277, 388-389.
4. Zareparsi, S., Kay, J., Camicioli, R., Kramer, P., Nutt, J., Bird, T., Litt, M. and Payami, H. (1998) Analysis of the α-synuclein G209A mutation in familial Parkinson's disease. Lancet, 351, 37-38.
5. Farrer, M., Wavrant-De Vrieze, F., Crook, R., Perez-Tur, J., Hardy, J., Johnson, W.G., Steele, J., Maraganore, D., Gwinn, K. and Lynch, T. (1998) Low frequencey of alpha-synuclein mutations in familial Parkinson's disease. Ann. Neural., in press.
6. Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R. and Goedert, M. (1997) Alpha-synuclein in Lewy bodies. Nature, 388, 839-840.
7. Maraganore, D., Harding, A.E. and Marsden, C.D. (1991) A clinical and genetic study of familial Parkinson's disease. Movement Disord., 6, 205-211.
8. Nickerson, D.A., Tobe, V.O. and Taylor, S.L. (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res., 25, 2745-2751.
9. Wszolek, Z.K., Cordes, M., Calne, D.B., Munter, M.D., Cordes, I. and Pfeiffer, R.F. (1993) Hereditary Parkinson's disease: report of 3 families with dominant autosomal inheritance. Nervenarzt, 64, 331-335.
10. Denson, M.A. and Wszolek Z.K. (1995) Familial parkinsonism: our experience and review. In Calne, D. (ed.), Parkinsonism and Related Disorders. Vol. 1, pp.35-46. Elsevier Science, UK.
11. Wszolek, Z.K., Pfeiffer, B., Fulgham, J.R., Parisi, J.R., Thompson, B.M., Uitti, R.J., Calne, D.B. and Pfeiffer R.F. (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology, 45, 502-505.
12. Denson, M.A., Wszolek, Z.K., Pfeiffer, R.F., Wszolek, E.K., Paschall, T.M. and McComb, R.D. (1997) Familial Parkinsonism, dementia and Lewy body disease: study of family G. Ann. Neurol, 42, 638-643.
13. Bonifati, V., Fabrizio, E., Vanacore, N., Gasparini, M. and Meco, G. (1996) A large Italian family with dominantly inherited levodopa-responsive parkinsonism and isolated tremors. Movement Disord., 11 (Suppl.1), 86 (Abstract).
14. Bonifati, V., Vanacore, N. and Meco, G. (1994) Anticipation of onset age in familial Parkinson's Disease. Neurology, 44, 1978-1979.