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β-Synuclein gene alterations in dementia with Lewy bodies
Open accessAbstract
OBJECTIVE: To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely related to Parkinson disease (PD). METHODS: The authors ascertained 33 sporadic cases of DLB and 10 kindreds segregating DLB. DNA samples from the 43 index cases were screened for alterations in the genes for alpha-synuclein and beta-synuclein, as alpha-synuclein alterations cause PD and beta-synuclein may modulate alpha-synuclein aggregation and neurotoxicity. RESULTS: Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. These amino acid substitutions occur at conserved residues in highly conserved regions of the beta-synuclein protein. Screening of at least 660 chromosomes from control subjects matched to the patients' population groups failed to identify another V70M or P123H allele. Cosegregation analysis of an extended pedigree segregating the P123H beta-synuclein alteration suggested that it is a dominant trait with reduced penetrance or a risk factor polymorphism. Histopathology and immunohistochemistry analysis of index case brain sections revealed widespread Lewy body pathology and alpha-synuclein aggregation without evidence of beta-synuclein aggregation. CONCLUSION: Mutations in the beta-synuclein gene may predispose to DLB.
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McKeith, I. G., Galasko, D., Kosaka, K., Perry, E. K., Dickson, D. W., Hansen, L. A., Salmon, D. P., Lowe, J., Mirra, S. S., Byrne, E. J., et al. (1996) · Neurology · doi:10.1212/wnl.47.5.1113 · Cited by 3,960
β-Synuclein Inhibits α-Synuclein Aggregation
Hashimoto, M., Rockenstein, E., Mante, M., Mallory, M., & Masliah, E. (2001) · Neuron · doi:10.1016/s0896-6273(01)00462-7 · Cited by 398
Cited by
-Synuclein in Parkinson's Disease
Stefanis, L. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009399 · Cited by 1,446
Bendor, J. T., Logan, T. P., & Edwards, R. H. (2013) · Neuron · doi:10.1016/j.neuron.2013.09.004 · Cited by 825
The Synaptic Function of α-Synuclein
Burré, J. (2015) · Journal of Parkinson's Disease · doi:10.3233/jpd-150642 · Cited by 573
Chu, Y., & Kordower, J. H. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2006.08.021 · Cited by 396
Dementia with Lewy bodies: an update and outlook
Outeiro, T. F., Koss, D. J., Erskine, D., Walker, L., Kurzawa-Akanbi, M., Burn, D., Donaghy, P., Morris, C., Taylor, J.-P., Thomas, A., et al. (2019) · Molecular Neurodegeneration · doi:10.1186/s13024-019-0306-8 · Cited by 381
Metadata
- Authors
- Ohtake, H., Limprasert, P., Fan, Y., Onodera, O., Kakita, A., Takahashi, H., Bonner, L. T., Tsuang, D. W., Murray, I. V. J., Lee, V. M.-Y., Trojanowski, J. Q., Ishikawa, A., Idezuka, J., Murata, M., Toda, T., Bird, T. D., Leverenz, J. B., Tsuji, S., & La Spada, A. R.
- Venue
- Neurology
- Published
- 2004-09-14
- Volume
- 63
- Issue
- 5
- Pages
- 805-811
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2064681168
- Cited by
- 173
- References
- 2
- FWCI
- 5.91
- Type
- journal article
- Language
- en
- Open access
- green
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- Ohtake, H., Limprasert, P., Fan, Y., Onodera, O., Kakita, A., Takahashi, H., Bonner, L. T., Tsuang, D. W., Murray, I. V. J., Lee, V. M.-Y., Trojanowski, J. Q., Ishikawa, A., Idezuka, J., Murata, M., Toda, T., Bird, T. D., Leverenz, J. B., Tsuji, S., & La Spada, A. R. (2004). β-Synuclein gene alterations in dementia with Lewy bodies. Neurology. https://doi.org/10.1212/01.wnl.0000139870.14385.3c
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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