The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Abstract
Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. Ann Neurol 2006
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
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Self-citationα-Synuclein Locus Triplication Causes Parkinson's Disease
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Self-citationHereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science · doi:10.1126/science.1096284 · Cited by 3,481
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
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Self-citationMutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
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The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
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Self-citationCollaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease
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“…three copies of the gene, develop the disease about a decade later than those with four copies of synuclein and the disease course, while still aggressive, is generally more benign (Singleton et al. 2003; Farrer et al. 2004; Singleton and Gwinn-Hardy 2004; Nishioka et al. 2006; Ross et al. 2008a).”
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Metadata
- Authors
- Nishioka, K., Hayashi, S., Farrer, M. J., Singleton, A. B., Yoshino, H., Imai, H., Kitami, T., Sato, K., Kuroda, R., Tomiyama, H., Mizoguchi, K., Murata, M., Toda, T., Imoto, I., Inazawa, J., Mizuno, Y., & Hattori, N.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2005-12-15
- Volume
- 59
- Issue
- 2
- Pages
- 298-309
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2151199043
- Cited by
- 316
- References
- 33
- FWCI
- 13.11
- Type
- journal article
- Language
- en
- Open access
- closed
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- Nishioka, K., Hayashi, S., Farrer, M. J., Singleton, A. B., Yoshino, H., Imai, H., Kitami, T., Sato, K., Kuroda, R., Tomiyama, H., Mizoguchi, K., Murata, M., Toda, T., Imoto, I., Inazawa, J., Mizuno, Y., & Hattori, N. (2006). Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease. Annals of Neurology. https://doi.org/10.1002/ana.20753
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