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- Betsholtz, Christer, et al.
(author)
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PDGF, Pericytes and the Pathogenesis of Idiopathic Basal Ganglia Calcification (IBGC)
- 2014
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In: Brain Pathology. - : Wiley. - 1015-6305 .- 1750-3639. ; 24:4, s. 387-395
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Journal article (peer-reviewed)abstract
- Platelet-derived growth factors (PDGFs) are important mitogens for various types of mesenchymal cells, and as such, they exert critical functions during organogenesis in mammalian embryonic and early postnatal development. Increased or ectopic PDGF activity may also cause or contribute to diseases such as cancer and tissue fibrosis. Until recently, no loss-of-function (LOF) mutations in PDGF or PDGF receptor genes were reported as causally linked to a human disease. This changed in 2013 when reports appeared on presumed LOF mutations in the genes encoding PDGF-B and its receptor PDGF receptor-beta (PDGF-R) in familial idiopathic basal ganglia calcification (IBGC), a brain disease characterized by anatomically localized calcifications in or near the blood microvessels. Here, we review PDGF-B and PDGF-R biology with special reference to their functions in brain-blood vessel development, pericyte recruitment and the regulation of the blood-brain barrier. We also discuss various scenarios for IBGC pathogenesis suggested by observations in patients and genetically engineered animal models of the disease.
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- Craggs, Lucinda, et al.
(author)
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Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases
- 2013
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In: Brain Pathology. - : Wiley. - 1015-6305 .- 1750-3639. ; 23:5, s. 547-557
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Journal article (peer-reviewed)abstract
- We quantified vascular changes in the frontal lobe and basal ganglia of four inherited small vessel diseases (SVDs) including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), hereditary multi-infarct dementia of Swedish type (Swedish hMID), and hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Vascular pathology was most severe in CADASIL, and varied with marginally greater severity in the basal ganglia compared to the frontal lobe. The overall sclerotic index values in frontal lobe were in the order CADASIL≥HERNS>PADMAL>Swedish hMID>sporadic SVD, and in basal ganglia CADASIL>HERNS>Swedish hMID>PADMAL> sporadic SVD. The subcortical white matter was almost always more affected than any gray matter. We observed glucose transporter-1 (GLUT-1) protein immunoreactivities were most affected in the white matter indicating capillary degeneration whereas collagen IV (COL4) immunostaining was increased in PADMAL cases in all regions and tissue types. Overall, GLUT-1:COL4 ratios were higher in the basal ganglia indicating modifications in capillary density compared to the frontal lobe. Our study shows that the extent of microvascular degeneration varies in these genetic disorders exhibiting common end-stage pathologies but is the most aggressive in CADASIL.
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- George, Sonia, et al.
(author)
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α-Synuclein: The Long Distance Runner.
- 2013
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In: Brain Pathology. - : Wiley. - 1750-3639 .- 1015-6305. ; 23:3, s. 350-357
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Journal article (peer-reviewed)abstract
- Parkinson's disease is characterized by α-synuclein pathology in the form of Lewy bodies and Lewy neurites. Braak et al described the spatial and temporal spread of α-synuclein pathology in Parkinson's disease. Recent experimental studies have demonstrated that α-synuclein can transfer from cell to cell. In this review, we highlight the involvement of α-synuclein in Parkinson's disease and in Braak's staging of Parkinson's disease pathology. We discuss whether a prion-like mechanism of α-synuclein spread might contribute to Parkinson's disease pathology. We describe recent studies investigating cell-to-cell transfer of α-synuclein and focus our review on the long-distance axonal transport of α-synuclein along neurons.
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- Iacono, D., et al.
(author)
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Neuropathologic Assessment of Dementia Markers in Identical and Fraternal Twins
- 2014
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In: Brain Pathology. - : Wiley. - 1015-6305 .- 1750-3639. ; 24:4, s. 317-333
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Journal article (peer-reviewed)abstract
- Twin studies are an incomparable source of investigation to shed light on genetic and non-genetic components of neurodegenerative diseases, as Alzheimer's disease (AD). Detailed clinicopathologic correlations using twin longitudinal data and post-mortem examinations are mostly missing. We describe clinical and pathologic findings of seven monozygotic (MZ) and dizygotic (DZ) twin pairs. Our findings show good agreement between clinical and pathologic diagnoses in the majority of the twin pairs, with greater neuropathologic concordance in MZ than DZ twins. Greater neuropathologic concordance was found for -amyloid than tau pathology within the pairs. ApoE4 was associated with higher -amyloid and earlier dementia onset, and importantly, higher frequency of other co-occurring brain pathologies, regardless of the zygosity. Dementia onset, dementia duration, difference between twins in age at dementia onset and at death, did not correlate with AD pathology. These clinicopathologic correlations of older identical and fraternal twins support the relevance of genetic factors in AD, but not their sufficiency to determine the pathology, and consequently the disease, even in monozygotic twins. It is the interaction among genetic and non-genetic risks which plays a major role in influencing, or probably determining, the degeneration of those brain circuits associated with pathology and cognitive deficits in AD.
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- Kalimo, H., et al.
(author)
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Details of neuropathology in Arctic Alzheimer's disease
- 2010
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In: Abstracts of the XVIIth International Congress of Neuropathology (ICN 2010), Salzburg, Austria, 11-15 September 2010. - : Wiley. ; , s. 22-23
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Conference paper (other academic/artistic)
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- Tikka, S, et al.
(author)
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CADASIL and CARASIL
- 2014
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In: Brain pathology (Zurich, Switzerland). - : Wiley. - 1750-3639 .- 1015-6305. ; 24:5, s. 525-544
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Journal article (peer-reviewed)
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