The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies

A. Hofer; D. Berg; F. Asmus; M. Niwar; G. Ransmayr; M. Riemenschneider; S. B. Bonelli; M. Steffelbauer; A. Ceballos-Baumann; P. Haussermann; S. Behnke; R. Krüger; J. Prestel; M. Sharma; A. Zimprich; O. Riess; T. Gasser

doi:10.1007/s00702-004-0263-3

The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies

A. Hofer, D. Berg, F. Asmus, M. Niwar, G. Ransmayr, M. Riemenschneider, S. B. Bonelli, M. Steffelbauer, A. Ceballos-Baumann, P. Haussermann, S. Behnke, R. Krüger, J. Prestel, M. Sharma, A. Zimprich, O. Riess, T. Gasser^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

26 Citations (Scopus)

Abstract

Background: A triplication of the α-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of α-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of α-synuclein. Mutational screening of the entire coding region of α-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.

Original language	English
Pages (from-to)	1249-1254
Number of pages	6
Journal	Journal of Neural Transmission
Volume	112
Issue number	9
DOIs	https://doi.org/10.1007/s00702-004-0263-3
Publication status	Published - Sept 2005
Externally published	Yes

Keywords

Alpha-synuclein
Lewy-body
Parkinson's disease

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10.1007/s00702-004-0263-3

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Hofer, A., Berg, D., Asmus, F., Niwar, M., Ransmayr, G., Riemenschneider, M., Bonelli, S. B., Steffelbauer, M., Ceballos-Baumann, A., Haussermann, P., Behnke, S., Krüger, R., Prestel, J., Sharma, M., Zimprich, A., Riess, O., & Gasser, T. (2005). The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies. Journal of Neural Transmission, 112(9), 1249-1254. https://doi.org/10.1007/s00702-004-0263-3

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title = "The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies",

abstract = "Background: A triplication of the α-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of α-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of α-synuclein. Mutational screening of the entire coding region of α-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.",

keywords = "Alpha-synuclein, Lewy-body, Parkinson's disease",

author = "A. Hofer and D. Berg and F. Asmus and M. Niwar and G. Ransmayr and M. Riemenschneider and Bonelli, {S. B.} and M. Steffelbauer and A. Ceballos-Baumann and P. Haussermann and S. Behnke and R. Kr{\"u}ger and J. Prestel and M. Sharma and A. Zimprich and O. Riess and T. Gasser",

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Hofer, A, Berg, D, Asmus, F, Niwar, M, Ransmayr, G, Riemenschneider, M, Bonelli, SB, Steffelbauer, M, Ceballos-Baumann, A, Haussermann, P, Behnke, S, Krüger, R, Prestel, J, Sharma, M, Zimprich, A, Riess, O & Gasser, T 2005, 'The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies', Journal of Neural Transmission, vol. 112, no. 9, pp. 1249-1254. https://doi.org/10.1007/s00702-004-0263-3

TY - JOUR

T1 - The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies

AU - Hofer, A.

AU - Berg, D.

AU - Asmus, F.

AU - Niwar, M.

AU - Ransmayr, G.

AU - Riemenschneider, M.

AU - Bonelli, S. B.

AU - Steffelbauer, M.

AU - Ceballos-Baumann, A.

AU - Haussermann, P.

AU - Behnke, S.

AU - Krüger, R.

AU - Prestel, J.

AU - Sharma, M.

AU - Zimprich, A.

AU - Riess, O.

AU - Gasser, T.

PY - 2005/9

Y1 - 2005/9

N2 - Background: A triplication of the α-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of α-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of α-synuclein. Mutational screening of the entire coding region of α-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.

AB - Background: A triplication of the α-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of α-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of α-synuclein. Mutational screening of the entire coding region of α-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.

KW - Alpha-synuclein

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ER -

The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies

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Keywords

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