The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia
Open accessAbstract
Four-hundred and fifty-one blood samples from Scandinavian patients with motor neuron disease were analysed for mutations in the CuZn-superoxide dismutase gene. Forty-one (9.6%) of the 427 patients with the amyotrophic lateral sclerosis (ALS) form of the disease were found to have a disease-associated mutation, and 14 of these patients were apparently sporadic cases. A mutation was found in 12 of the 51 families with recognized familial ALS. The five different mutations found (Ala4Val, Val14Gly, Asp76Tyr, Asp90Ala, Gly127insTGGG) have different genetic characteristics and are associated with very variable phenotypes spanning from rapidly progressing disease with only lower motor neuron signs to very slowly progressing disease with both the upper and lower motor neuron systems affected. The patients showed different sites of onset, though the progressive bulbar palsy form of the disease appears to be rare among patients with a CuZn-superoxide dismutase mutation. The progression of motor signs and symptoms followed the same basic pattern in patients with different mutations. Extra-motor system symptoms were frequent among patients with a CuZn-superoxide dismutase mutation. The results suggest that patients with mutations in the CuZn-superoxide dismutase gene constitute one disease entity. The Val14Gly and Asp76Tyr mutations have not been reported before, and the latter is the first mutation to be found in exon 3 of the CuZn-superoxide dismutase gene.
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Determination and analysis of the 2 Å structure of copper, zinc superoxide dismutase
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Cited by
Caughey, B., & Lansbury, P. T. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.010302.081142 · Cited by 1,650
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4000 · Cited by 786
Self-citationClinical genetics of amyotrophic lateral sclerosis: what do we really know?
Andersen, P. M., & Al-Chalabi, A. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.150 · Cited by 687
Self-citationPhenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
Chio, A., Calvo, A., Moglia, C., Mazzini, L., Mora, G., & PARALS study group (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.235952 · Cited by 621
Metadata
- Authors
- Andersen, P.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-10-01
- Volume
- 120
- Issue
- 10
- Pages
- 1723-1737
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2055062944
- Cited by
- 306
- References
- 53
- FWCI
- 8.21
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Andersen, P. (1997). Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia. Brain. https://doi.org/10.1093/brain/120.10.1723
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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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