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2024-06-21
15:47
DBCoverage [DZNE-2024-00797] Journal Article
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Gliovascular transcriptional perturbations in Alzheimer's disease reveal molecular mechanisms of blood brain barrier dysfunction.
To uncover molecular changes underlying blood-brain-barrier dysfunction in Alzheimer's disease, we performed single nucleus RNA sequencing in 24 Alzheimer's disease and control brains and focused on vascular and astrocyte clusters as main cell types of blood-brain-barrier gliovascular-unit. The majority of the vascular transcriptional changes were in pericytes. [...]
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2024-06-21
15:45
DBCoverage [DZNE-2024-00796] Journal Article
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Mis-localization of endogenous TDP-43 leads to ALS-like early-stage metabolic dysfunction and progressive motor deficits.
The key pathological signature of ALS/ FTLD is the mis-localization of endogenous TDP-43 from the nucleus to the cytoplasm. However, TDP-43 gain of function in the cytoplasm is still poorly understood since TDP-43 animal models recapitulating mis-localization of endogenous TDP-43 from the nucleus to the cytoplasm are missing.CRISPR/Cas9 technology was used to generate a zebrafish line (called CytoTDP), that mis-locates endogenous TDP-43 from the nucleus to the cytoplasm. [...]
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2024-06-21
13:10
DBCoverage [DZNE-2024-00795] Journal Article
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Temporal and spatial progression of microstructural cerebral degeneration in ALS: A multicentre longitudinal diffusion tensor imaging study
Objective: The corticospinal tract (CST) reveals progressive microstructural alterations in ALS measurable by DTI. The aim of this study was to evaluate fractional anisotropy (FA) along the CST as a longitudinal marker of disease progression in ALS. [...]
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2024-06-21
13:06
DBCoverage [DZNE-2024-00794] Journal Article
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Genetic identification of medullary neurons underlying congenital hypoventilation.
Science advances 10(25), eadj0720 () [10.1126/sciadv.adj0720]
Mutations in the transcription factors encoded by PHOX2B or LBX1 correlate with congenital central hypoventilation disorders. These conditions are typically characterized by pronounced hypoventilation, central apnea, and diminished chemoreflexes, particularly to abnormally high levels of arterial PCO2. [...]
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2024-06-21
13:03
pmc [DZNE-2024-00793] Journal Article
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Conformational diversity of human HP1α.
Protein science 33(7), e5079 () [10.1002/pro.5079]
Heterochromatin protein 1 alpha (HP1α) is an evolutionarily conserved protein that binds chromatin and is important for gene silencing. The protein comprises 191 residues arranged into three disordered regions and two structured domains, the chromo and chromoshadow domain, which associates into a homodimer. [...]
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2024-06-21
13:00
DBCoverage [DZNE-2024-00792] Journal Article
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Discrepancies between self- and proxy-rated quality of life in people living with dementia.
The aim of this study was to analyze discrepancies between self- and proxy-rated health-related quality of life (HRQoL), measured with the EuroQol 5 Dimension 5 Level survey (EQ-5D-5L), in people living with dementia (PlwD) and their caregivers on an individual response level.EQ-5D-5L, sociodemographic and clinical data were obtained from baseline data of n = 174 dyads of a cluster-randomized, controlled intervention trial. Self- and proxy-rated EQ-5D-5L health profiles were evaluated in terms of response distribution and agreement (weighted Kappa), and discrepancies in individual dimension level were analyzed using the Paretian Classification of Health Change (PCHC) as well as the presence and degree of inconsistencies between ratings.PlwD had a mean age of 80.1, nearly the half were female and 82.3% were mildly to moderately cognitively impaired. [...]
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2024-06-21
11:36
pmc [DZNE-2024-00791] Journal Article
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Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Nature medicine 30(6), 1771 - 1783 () [10.1038/s41591-024-02937-4]
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 and full-length tau, which allow the quantification of 3-repeat (3R) and 4-repeat (4R) tau isoforms. [...]
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2024-06-21
09:58
DBCoverage [DZNE-2024-00790] Journal Article
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Screening instruments of cognition: The relation of the mini-mental state examination to the Edinburgh cognitive and behavioural ALS screen in amyotrophic lateral sclerosis.
PLOS ONE 19(6), e0304593 () [10.1371/journal.pone.0304593]
The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is an established cognitive screening instrument for patients with amyotrophic lateral sclerosis (ALS). Different from tools like the Mini-Mental State Examination (MMSE), it is adjusted for motor impairment, yet, the latter remains one of the most widely used screening instruments, also in ALS studies. [...]
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2024-06-20
15:13
DBCoverage [DZNE-2024-00789] Journal Article
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Precision Balance Assessment in Parkinson's Disease: Utilizing Vision-Based 3D Pose Tracking for Pull Test Analysis.
Sensors 24(11), 3673 () [10.3390/s24113673] special issue: "Wearable Sensors for Monitoring Athletic and Clinical Cohorts"
Postural instability is a common complication in advanced Parkinson's disease (PD) associated with recurrent falls and fall-related injuries. The test of retropulsion, consisting of a rapid balance perturbation by a pull in the backward direction, is regarded as the gold standard for evaluating postural instability in PD and is a key component of the neurological examination and clinical rating in PD (e.g., MDS-UPDRS). [...]
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2024-06-20
15:10
DBCoverage [DZNE-2024-00788] Journal Article
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Gait Variability as a Potential Motor Marker of Cerebellar Disease-Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed.
Sensors 24(11), 3476 () [10.3390/s24113476]
Excessive stride variability is a characteristic feature of cerebellar ataxias, even in pre-ataxic or prodromal disease stages. This study explores the relation of variability of arm swing and trunk deflection in relationship to stride length and gait speed in previously described cohorts of cerebellar disease and healthy elderly: we examined 10 patients with spinocerebellar ataxia type 14 (SCA), 12 patients with essential tremor (ET), and 67 healthy elderly (HE). [...]
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