| 1. |
|
|
| 2. |
|
|
| 3. |
- Martikainen, P., et al.
(författare)
-
Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation
- 2010
-
Ingår i: Neuropathology and Applied Neurobiology. - : Wiley. - 0305-1846 .- 1365-2990. ; 36:1, s. 41-54
-
Tidskriftsartikel (refereegranskat)abstract
- AIMS: Our goal was to assess pathological lesions with respect to type and distribution and to compare these results with the clinical presentation including symptoms and mode of progression in three members of the same pedigree with a P264L presenilin-1 gene mutation. METHODS: We used immunohistochemistry and a tissue microarray technique applied to post mortem brain tissue samples. RESULTS: All three subjects were demented, one subject displayed spastic paraparesis and two had Parkinsonism. All three cases displayed abundant cotton wool plaques composed of amyloid-beta42 but also containing other proteins, for example, hyperphosphorylated tau and in one case TAR DNA binding protein 43. The distribution of the pathology varied and seemed to some extent to be related to the clinical phenotype. An association was detected between neocortical/thalamic involvement and psychiatric symptoms, between striatal/amygdaloid involvement and Parkinsonism, and between brainstem involvement and spastic paraparesis. CONCLUSIONS: Subjects from the same pedigree carrying the same mutation display a clear variability in the type and distribution of pathology as well as in their clinical symptoms. These results emphasize that still unknown factors significantly alter the pathological and clinical phenotypes in genetically predetermined disease.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Tuisku, Jouni, et al.
(författare)
-
Effects of age, BMI and sex on the glial cell marker TSPO : a multicentre [11C]PBR28 HRRT PET study
- 2019
-
Ingår i: European Journal of Nuclear Medicine and Molecular Imaging. - : Springer. - 1619-7070 .- 1619-7089. ; 46:11, s. 2329-2338
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose The purpose of this study was to investigate the effects of ageing, sex and body mass index (BMI) on translocator protein (TSPO) availability in healthy subjects using positron emission tomography (PET) and the radioligand [C-11]PBR28. Methods [C-11]PBR28 data from 140 healthy volunteers (72 males and 68 females; N = 78 with HAB and N = 62 MAB genotype; age range 19-80 years; BMI range 17.6-36.9) were acquired with High Resolution Research Tomograph at three centres: Karolinska Institutet (N = 53), Turku PET centre (N = 62) and Yale University PET Center (N = 25). The total volume of distribution (V-T) was estimated in global grey matter, frontal, temporal, occipital and parietal cortices, hippocampus and thalamus using multilinear analysis 1. The effects of age, BMI and sex on TSPO availability were investigated using linear mixed effects model, with TSPO genotype and PET centre specified as random intercepts. Results There were significant positive correlations between age and V-T in the frontal and temporal cortex. BMI showed a significant negative correlation with V-T in all regions. Additionally, significant differences between males and females were observed in all regions, with females showing higher V-T. A subgroup analysis revealed a positive correlation between V-T and age in all regions in male subjects, whereas age showed no effect on TSPO levels in female subjects. Conclusion These findings provide evidence that individual biological properties may contribute significantly to the high variation shown in TSPO binding estimates, and suggest that age, BMI and sex can be confounding factors in clinical studies.
|
|
| 7. |
- Woodard, J., et al.
(författare)
-
Zircon and monazite geochronology of deformation in the Pielavesi Shear Zone, Finland: multistage evolution of the Archaean–Proterozoic boundary in the Fenoscandian Shield.
- 2017
-
Ingår i: Journal of the Geological Society. - : Geological Society of London. - 0016-7649 .- 2041-479X. ; 174, s. 255-267
-
Tidskriftsartikel (refereegranskat)abstract
- The Raahe–Ladoga Shear Complex is a major crustal structure representing the Archaean–Palaeoproterozoic boundary in the Fennoscandian Shield. The complex developed during the Svecofennian Orogeny (c. 1.9 – 1.8 Ga) beginning with regional thrust tectonic phases D1 and D2, followed by large-scale shearing events D3 and D4. The Pielavesi Shear Zone is a vertical north–south-trending shear zone within the Raahe–Ladoga Shear Complex formed during regional D3 shearing and later reactivated during the regional D4 phase. Three north–south-trending elongate granitoid intrusions were selected as representative of silicic melts that intruded the transtensional Pielavesi Shear Zone during the regional D3 phase. The oriented magmatic fabric of the granitoids indicates that they intruded coeval to the deformation event. The zircon U–(Th)–Pb secondary ionization mass spectrometry (SIMS) ages of these intrusions (1888 ± 4, 1884 ± 6 and 1883 ± 5 Ma) overlap within error and provide a direct age for the regional D3 deformation. εHf(T)(−1.1 to +3.4) and εNd(T) (−1.2 to +0.4) values from these granitoids are both consistent with a predominantly juvenile source affected by a minor Archaean component. U–(Th)–Pb SIMS analyses of metamorphic monazite formed within a crosscutting blastomylonite provide an age for the regional D4phase and associated fluid activity of 1793 ± 3 Ma.
|
|
