α-Synuclein Locus Triplication Causes Parkinson'sDisease.
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| Title: | α-Synuclein Locus Triplication Causes Parkinson'sDisease. |
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| Authors: | Singleton, A. B., Fairer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., Lincoln, S., Crawley, A., Hanson, M., Maraganore, D., Adler, C., Cookson, M. R., Muenter, M., Baptista, M., Miller, D., Blancato, J. |
| Source: | Science (pre-March 2025). 10/31/2003, Vol. 302 Issue 5646, p841-841. 1p. 1 Graph. |
| Subjects: | Brain diseases, Genetics, Parkinson's disease, Cytoplasm |
| Abstract: | Mutations in theα-synuclein gene (SNCA) in the Contursi kindred implicated this gene in Parkinson's disease (PD). Subsequently, α-synuclein was identified as the major component of Lewy bodies, the pathological hallmark of PD, and of glial cell cytoplasmic inclusions. The researchers examined a large family with autosomal dominant PD (average age of onset, 34 years), ranging clinically from dementia with Lewy bodies to typical PD. Neuropathological examination of affected members revealed profound pathology including extensive Lewy bodies and some glial cell cytoplasmic inclusions. Screening this family for mutations in, or linkage to, SNCA was negative. Linkage analysis revealed a chromosome 4pl5 haplorype segregating with parkinsonism and essential tremor, with suggestive evidence for linkage to PARK4 multipoint logarithm of odds (LOD) 2.64 at D4S1609. |
| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | Mutations in theα-synuclein gene (SNCA) in the Contursi kindred implicated this gene in Parkinson's disease (PD). Subsequently, α-synuclein was identified as the major component of Lewy bodies, the pathological hallmark of PD, and of glial cell cytoplasmic inclusions. The researchers examined a large family with autosomal dominant PD (average age of onset, 34 years), ranging clinically from dementia with Lewy bodies to typical PD. Neuropathological examination of affected members revealed profound pathology including extensive Lewy bodies and some glial cell cytoplasmic inclusions. Screening this family for mutations in, or linkage to, SNCA was negative. Linkage analysis revealed a chromosome 4pl5 haplorype segregating with parkinsonism and essential tremor, with suggestive evidence for linkage to PARK4 multipoint logarithm of odds (LOD) 2.64 at D4S1609. |
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| ISSN: | 00368075 |
| DOI: | 10.1126/science.1090278 |
