The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Abstract
Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.
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Cites
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
Self-citation
Cited by
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
West, A. B., Moore, D. J., Biskup, S., Bugayenko, A., Smith, W. W., Ross, C. A., Dawson, V. L., & Dawson, T. M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507360102 · Cited by 1,228
Parkinson’s disease: genetics and pathogenesis
Shulman, J. M., De Jager, P. L., & Feany, M. B. (2011) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130242 · Cited by 801
Cooper, O., Seo, H., Andrabi, S., Guardia-Laguarta, C., Graziotto, J., Sundberg, M., McLean, J. R., Carrillo-Reid, L., Xie, Z., Osborn, T., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003985 · Cited by 508
Self-citationProgressive Supranuclear Palsy: Pathology and Genetics
Dickson, D. W., Rademakers, R., & Hutton, M. L. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00054.x · Cited by 314
Self-citationCell death pathways in Parkinson’s disease: proximal triggers, distal effectors, and final steps
Levy, O. A., Malagelada, C., & Greene, L. A. (2009) · Apoptosis · doi:10.1007/s10495-008-0309-3 · Cited by 287
Metadata
- Authors
- Wszolek, Z. K., Pfeiffer, R. F., Tsuboi, Y., Uitti, R. J., McComb, R. D., Stoessl, A. J., Strongosky, A. J., Zimprich, A., Müller-Myhsok, B., Farrer, M. J., Gasser, T., Calne, D. B., & Dickson, D. W.
- Venue
- Neurology
- Published
- 2004-05-11
- Volume
- 62
- Issue
- 9
- Pages
- 1619-1622
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2050310121
- Cited by
- 266
- References
- 1
- FWCI
- 19.83
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Wszolek, Z. K., Pfeiffer, R. F., Tsuboi, Y., Uitti, R. J., McComb, R. D., Stoessl, A. J., Strongosky, A. J., Zimprich, A., Müller-Myhsok, B., Farrer, M. J., Gasser, T., Calne, D. B., & Dickson, D. W. (2004). Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology. https://doi.org/10.1212/01.wnl.0000125015.06989.db
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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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