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Article
Open AccessPARKIN is not required to sustain OXPHOS function in adult mammalian tissues
Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson’s disease (PD). Extensive in vitro and in vivo studies have reported that PARKIN ...
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Article
Open AccessTBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers
Frontotemporal dementia (FTD) is a neurodegenerative disease, resulting in progressive problems in language and/or behaviour and is often diagnosed before 65 years of age. Ubiquitin positive protein aggregates...
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Article
Lack of fibrillar amyloid plaques but hypometabolism and astrogliosis in autosomal dominant variant AßPParc Alzheimer’s disease
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Article
Open AccessAstroglial tracer BU99008 detects multiple binding sites in Alzheimer’s disease brain
With reactive astrogliosis being established as one of the hallmarks of Alzheimer’s disease (AD), there is high interest in develo** novel positron emission tomography (PET) tracers to detect early astrocyte...
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Article
Open AccessAmyloid, tau, and astrocyte pathology in autosomal-dominant Alzheimer’s disease variants: AβPParc and PSEN1DE9
Autosomal-dominant Alzheimer’s disease (ADAD) may be associated with atypical amyloid beta deposits in the brain. In vivo amyloid imaging using 11C-Pittsburgh compound B (PiB) tracer has shown differences in bind...
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Article
Open AccessAn unusual cause of fatal rapid-onset ataxia plus syndrome
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppressi...
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Article
Open AccessRespiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...
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Article
Open AccessCortical laminar tau deposits and activated astrocytes in Alzheimer’s disease visualised by 3H-THK5117 and 3H-deprenyl autoradiography
Hyperphosphorylated tau protein deposits and, inflammatory processes are characteristic components of Alzheimer disease (AD) pathology. We here aimed to visualize in vitro the distribution of tau deposits and act...
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Article
Open AccessTargeted delivery of nerve growth factor to the cholinergic basal forebrain of Alzheimer’s disease patients: application of a second-generation encapsulated cell biodelivery device
Targeted delivery of nerve growth factor (NGF) has emerged as a potential therapy for Alzheimer’s disease (AD) due to its regenerative effects on basal forebrain cholinergic neurons. This hypothesis has been t...
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Article
Open AccessEffects on muscle tissue remodeling and lipid metabolism in muscle tissue from adult patients with polymyositis or dermatomyositis treated with immunosuppressive agents
Polymyositis (PM) and dermatomyositis (DM) are autoimmune muscle diseases, conventionally treated with high doses of glucocorticoids in combination with immunosuppressive drugs. Treatment is often dissatisfyin...
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Article
Open AccessVisualization of regional tau deposits using 3H-THK5117 in Alzheimer brain tissue
The accumulation of neurofibrillary tangles, composed of aggregated hyperphosphorylated tau protein, starts spreading early in specific regions in the course of Alzheimer’s disease (AD), correlating with the ...
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Article
Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease
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Article
Open Access3H-Deprenyl and 3H-PIB autoradiography show different laminar distributions of astroglia and fibrillar β-amyloid in Alzheimer brain
The pathological features in Alzheimer’s disease (AD) brain include the accumulation and deposition of β-amyloid (Aβ), activation of astrocytes and microglia and disruption of cholinergic neurotransmission. Si...
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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
Mutations in the gene encoding the catalytic subunit of polymerase γ (POLG1) are a major cause of human mitochondrial disease. More than 150 different point mutations in the gene have been reported to be disea...
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Article
Open AccessMutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
Missense mutations in three different genes encoding amyloid-β precursor protein, presenilin 1 and presenilin 2 are recognized to cause familial early-onset Alzheimer disease. Also duplications of the amyloid ...
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Article
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
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Article
Multitracer study with positron emission tomography in Creutzfeldt-Jakob disease
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Article
Multitracer study with positron emission tomography in Creutzfeldt-Jakob disease
During the period February 1997 to April 2000, 15 patients with clinical symptoms of Creutzfeldt-Jakob disease (CJD) were referred to Uppsala University PET Centre. Positron emission tomography (PET) was perf...
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Article
Amyloid in a multiple sclerosis lesion is clearly of Aλ type
In rare multiple sclerosis cases amyloid is deposited in demyelinated plaques. In one such case amyloid was examined immunohistochemically with a panel of antibodies directed against different amyloid types. ...
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Article
Effects of intraneural injection of taxol on retrograde axonal transport and morphology of corresponding nerve cell bodies
Taxol exerts a potent effect on the assembly and stability of cellular micro tubules. In the present study this drug was injected into the facial nerve of mice, and its influence on retrograde axonal transport...
