The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1
Abstract
We performed genomewide linkage analysis of a Japanese family with autosomal dominant parkinsonism, which exhibits clinical features compatible with those of common Parkinson's disease. Parametric two‐point linkage analysis yielded a highest log odds (LOD) score of 4.32 at D12S345 (12p11.21). Parametric multipoint linkage analysis of the 13.6cM interval around this marker yielded LOD scores almost uniformly of >4.0 with a Z max of 4.71 at D12S85 (12q12). Haplotype analysis detected two obligate recombination events at D12S1631 and D12S339 and defined the disease‐associated haplotype in the 13.6cM interval in 12p11.2–q13.1. This haplotype was shared by all the patients and by some unaffected carriers, suggesting that disease penetration in this family is incomplete. This low penetrance suggests that environmental or other genetic factors modify expression of the disease. Nonparametric two‐point and multipoint linkage analyses, which are penetrance‐independent, yielded Z max LOD scores of 14.2 and 24.9 at D12S345, respectively, strongly supporting the mapping of the parkinsonism locus in this family to 12p11.23–q13.11. This chromosome region is different from any known locus for hereditary parkinsonism, in keeping with the unique genetic features of the parkinsonism in this family. The nomenclature of PARK8 was assigned to the new locus.
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Cites
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
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Tau is a candidate gene for chromosome 17 frontotemporal dementia
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The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
Zarranz, J. J., Alegre, J., Gómez‐Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atarés, B., et al. (2004) · Annals of Neurology · doi:10.1002/ana.10795 · Cited by 2,737
Balestrino, R., & Schapira, A. H. V. (2020) · European Journal of Neurology · doi:10.1111/ene.14108 · Cited by 1,508
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Taylor, J. P., Hardy, J., & Fischbeck, K. H. (2002) · Science · doi:10.1126/science.1067122 · Cited by 1,251
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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
Metadata
- Authors
- Funayama, M., Hasegawa, K., Kowa, H., Saito, M., Tsuji, S., & Obata, F.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2002-02-28
- Volume
- 51
- Issue
- 3
- Pages
- 296-301
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1970687029
- Cited by
- 667
- References
- 5
- FWCI
- 24.49
- Type
- journal article
- Language
- en
- Open access
- closed
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- Funayama, M., Hasegawa, K., Kowa, H., Saito, M., Tsuji, S., & Obata, F. (2002). A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1. Annals of Neurology. https://doi.org/10.1002/ana.10113
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