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- Low, W C, et al.
(author)
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Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL
- 2007
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In: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 130:Part 2, s. 357-367
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Journal article (peer-reviewed)abstract
- Several hereditary small vessel diseases (SVDs) of the brain have been reported in recent years. In 1977, Sourander and Wålinder described hereditary multi-infarct dementia (MID) in a Swedish family. In the same year, Stevens and colleagues reported chronic familial vascular encephalopathy in an English family bearing a similar phenotype. These disorders have invariably been suggested to be cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) but their genetic identities remain unknown. We used molecular, radiological and neuropathological methods to characterize these disorders. Direct DNA sequencing unexpectedly confirmed that affected members of the English family carried the R141C mutation in the NOTCH3 gene diagnostic of CADASIL. However, we did not detect any pathogenic mutations in the entire 8091 bp reading frame of NOTCH3 or find clear evidence for NOTCH3 gene linkage in the Swedish DNA. This was consistent with the lack of hyperintense signals in the anterior temporal pole and external capsule in Swedish subjects upon magnetic resonance imaging. We further found no evidence for granular osmiophilic material in skin biopsy or post-mortem brain samples of affected members in the Swedish family. In addition, there was distinct lack of NOTCH3 N-terminal fragments in the cerebral microvasculature of the Swedish hereditary MID subjects compared to the intense accumulation in the English family afflicted with CADASIL. Several differences in arteriosclerotic changes in both the grey and white matter were also noted between the disorders. The sclerotic index values, density of collagen IV immunoreactivity in the microvasculature and number of perivascular macrophages were greater in the English CADASIL samples compared to those from the Swedish brains. Multiple approaches suggest that the Swedish family with hereditary MID suspected to be CADASIL has a different novel disorder with dissimilar pathological features and belongs to the growing number of genetically uncharacterized familial SVDs.
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- Junna, Liina M., et al.
(author)
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Exploring the longevity advantage of doctorates in Finland and Sweden : The role of smoking- and alcohol-related causes of death
- 2021
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In: Scandinavian Journal of Public Health. - : SAGE Publications. - 1403-4948 .- 1651-1905. ; 49:4, s. 419-422
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Journal article (peer-reviewed)abstract
- Aims: Tobacco smoking and alcohol use contribute to differences in life expectancy between individuals with primary, secondary and tertiary education. Less is known about the contribution of these risk factors to differences at higher levels of education. We estimate the contribution of smoking and alcohol use to the life-expectancy differences between the doctorates and the other tertiary-educated groups in Finland and in Sweden. Methods: We used total population data from Finland and Sweden from 2011 to 2015 to calculate period life expectancies at 40 years of age. We present the results by sex and educational attainment, the latter categorised as doctorate or licentiate degrees, or other tertiary. We also present an age and cause of death decomposition to assess the contribution of deaths related to smoking and alcohol. Results: In Finland, deaths related to smoking and alcohol constituted 48.6% of the 2.1-year difference in life expectancy between men with doctorate degrees and the other tertiary-educated men, and 22.9% of the 2.1-year difference between women, respectively. In Sweden, these causes account for 22.2% of the 1.9-year difference among men, and 55.7% of the 1.6-year difference among women, which in the latter case is mainly due to smoking. Conclusions: Individuals with doctorates tend to live longer than other tertiary-educated individuals. This difference can be partly attributed to alcohol consumption and smoking.
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