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Article
Nimodipine-associated standard dose reductions and neurologic outcomes after aneurysmal subarachnoid hemorrhage: the era of pharmacogenomics
Nimodipine, an L-type cerebroselective calcium channel antagonist, is the only drug approved by the US Food and Drug Administration for the neuroprotection of patients with aneurysmal subarachnoid hemorrhage (...
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Article
Open AccessSystematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Despite substantial progress, causal variants are identified only for a minority of familial Parkinson’s disease (PD) cases, leaving high-risk pathogenic variants unidentified1,2. To identify such variants, we un...
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Article
Open AccessGenome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy,...
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Article
Role of GBA variants in Lewy body disease neuropathology
Rare and common GBA variants are risk factors for both Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA variants are associated with neuropathological features in Lew...
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Article
Cancer in pathologically confirmed multiple system atrophy
The aim of this study was to assess whether cancer occurs with increased frequency in multiple system atrophy (MSA). The pathological hallmark of MSA is glial cytoplasmic inclusions containing aggregated α-syn...
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Article
Open AccessPublisher Correction to: Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies
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Article
Open AccessDiffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies
Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by degeneration of the frontal and temporal lobes, leading to progressive decline in language, behavior, and motor function. FTLD ...
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Article
Open AccessCase report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are distinct clinicopathological subtypes of frontotemporal lobar degeneration. They both have atypical parkinsonism, and they usually h...
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Article
Open AccessMitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures
Dementia with Lewy bodies (DLB) is clinically diagnosed when patients develop dementia less than a year after parkinsonism onset. Age is the primary risk factor for DLB and mitochondrial health influences agei...
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Article
Open AccessAPOE4 exacerbates α-synuclein seeding activity and contributes to neurotoxicity in Alzheimer’s disease with Lewy body pathology
Approximately half of Alzheimer’s disease (AD) brains have concomitant Lewy pathology at autopsy, suggesting that α-synuclein (α-SYN) aggregation is a regulated event in the pathogenesis of AD. Genome-wide ass...
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Article
Tau polygenic risk scoring: a cost-effective aid for prognostic counseling in Alzheimer’s disease
Tau deposition is one of two hallmark features of biologically defined Alzheimer’s disease (AD) and is more closely related to cognitive decline than amyloidosis. Further, not all amyloid-positive individuals ...
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Article
PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson’s disease in Ireland
Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson’ disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier.
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Article
Dusp26 phosphatase regulates mitochondrial respiration and oxidative stress and protects neuronal cell death
The dual specificity protein phosphatases (Dusps) control dephosphorylation of mitogen-activated protein kinases (MAPKs) as well as other substrates. Here, we report that Dusp26, which is highly expressed in n...
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Article
Open AccessNeuropathology and molecular diagnosis of Synucleinopathies
Synucleinopathies are clinically and pathologically heterogeneous disorders characterized by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies, Lewy neurites, neuronal cytopl...
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Article
Open AccessA molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech
Progressive apraxia of speech is a neurodegenerative syndrome affecting spoken communication. Molecular pathology, biochemistry, genetics, and longitudinal imaging were investigated in 32 autopsy-confirmed pat...
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Article
Open AccessLatent trait modeling of tau neuropathology in progressive supranuclear palsy
Progressive supranuclear palsy (PSP) is the second most common neurodegenerative Parkinsonian disorder after Parkinson’s disease, and is characterized as a primary tauopathy. Leveraging the considerable clinic...
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Article
Open AccessTranscriptomic analysis to identify genes associated with selective hippocampal vulnerability in Alzheimer’s disease
Selective vulnerability of different brain regions is seen in many neurodegenerative disorders. The hippocampus and cortex are selectively vulnerable in Alzheimer’s disease (AD), however the degree of involvem...
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Article
Open AccessCo** with brain amyloid: genetic heterogeneity and cognitive resilience to Alzheimer’s pathophysiology
Although abnormal accumulation of amyloid in the brain is an early biomarker of Alzheimer’s disease (AD), wide variation in cognitive trajectories during life can be seen in the setting of brain amyloidosis, r...
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Article
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architect...
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Article
Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy
Investigate single nucleotide variants and short tandem repeats in 39 genes related to spinocerebellar ataxia in clinical and pathologically defined cohorts of multiple system atrophy.
