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Article
Open AccessAnnexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies
TAR DNA-binding protein 43 (TDP-43) is an RNA binding protein found within ribonucleoprotein granules tethered to lysosomes via annexin A11. TDP-43 protein forms inclusions in many neurodegenerative diseases i...
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Article
Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology
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Article
The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology
Increasing appreciation of the phenotypic and biological overlap between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, alongside evolving biomarker evidence for a pre-symptomatic stage of di...
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Article
Open AccessNovel data-driven subtypes and stages of brain atrophy in the ALS–FTD spectrum
TDP-43 proteinopathies represent a spectrum of neurological disorders, anchored clinically on either end by amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The ALS–FTD spectrum exhib...
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Article
TREM2 risk variants are associated with atypical Alzheimer’s disease
Alzheimer’s disease (AD) has multiple clinically and pathologically defined subtypes where the underlying causes of such heterogeneity are not well established. Rare TREM2 variants confer significantly increased ...
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Article
Regional distribution and maturation of tau pathology among phenotypic variants of Alzheimer’s disease
Alzheimer’s disease neuropathologic change (ADNC) is clinically heterogenous and can present with a classic multidomain amnestic syndrome or focal non-amnestic syndromes. Here, we investigated the distribution...
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Article
Open AccessMultimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration
Synapse degeneration is an early event in pathological frontotemporal lobar degeneration (FTLD). Consequently, a surrogate marker of synapse loss could be used to monitor early pathologic changes in patients w...
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Article
Open AccessTau deposition patterns are associated with functional connectivity in primary tauopathies
Tau pathology is the main driver of neuronal dysfunction in 4-repeat tauopathies, including cortico-basal degeneration and progressive supranuclear palsy. Tau is assumed to spread prion-like across connected n...
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Article
Open AccessSignature laminar distributions of pathology in frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) with either tau (FTLD-tau) or TDP-43 (FTLD-TDP) inclusions are distinct proteinopathies that frequently cause similar frontotemporal dementia (FTD) clinical syndromes. ...
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Chapter and Conference Paper
Learning Interpretable Regularized Ordinal Models from 3D Mesh Data for Neurodegenerative Disease Staging
We extend the sparse, spatially piecewise-contiguous linear classification framework for mesh-based data to ordinal logistic regression. The algorithm is intended for use with subcortical shape and cortical th...
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Article
Genome-wide association study and functional validation implicates JADE1 in tauopathy
Primary age-related tauopathy (PART) is a neurodegenerative pathology with features distinct from but also overlap** with Alzheimer disease (AD). While both exhibit Alzheimer-type temporal lobe neurofibrilla...
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Article
Open AccessPredictors of cognitive impairment in primary age-related tauopathy: an autopsy study
Primary age-related tauopathy (PART) is a form of Alzheimer-type neurofibrillary degeneration occurring in the absence of amyloid-beta (Aβ) plaques. While PART shares some features with Alzheimer disease (AD),...
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Article
Open AccessFrontotemporal lobar degeneration proteinopathies have disparate microscopic patterns of white and grey matter pathology
Frontotemporal lobar degeneration proteinopathies with tau inclusions (FTLD-Tau) or TDP-43 inclusions (FTLD-TDP) are associated with clinically similar phenotypes. However, these disparate proteinopathies like...
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Article
Degeneration of the locus coeruleus is a common feature of tauopathies and distinct from TDP-43 proteinopathies in the frontotemporal lobar degeneration spectrum
Neurodegeneration of the locus coeruleus (LC) in age-related neurodegenerative diseases such as Alzheimer’s disease (AD) is well documented. However, detailed studies of LC neurodegeneration in the full spectr...
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Article
Open AccessDistribution patterns of tau pathology in progressive supranuclear palsy
Progressive supranuclear palsy (PSP) is a 4R-tauopathy predominated by subcortical pathology in neurons, astrocytes, and oligodendroglia associated with various clinical phenotypes. In the present internationa...
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Article
Occupational attainment influences longitudinal decline in behavioral variant frontotemporal degeneration
To evaluate whether occupational attainment influences the trajectory of longitudinal cognitive decline in behavioral variant frontotemporal degeneration (bvFTD). Single-center, retrospective, longitudinal stu...
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Article
Multimodal evaluation demonstrates in vivo 18F-AV-1451 uptake in autopsy-confirmed corticobasal degeneration
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Article
Arterial spin labeling perfusion predicts longitudinal decline in semantic variant primary progressive aphasia
The objective of the study was to evaluate the prognostic value of regional cerebral blood flow (CBF) measured by arterial spin labeled (ASL) perfusion MRI in patients with semantic variant primary progressive...
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Article
MRI biomarkers — a precision medicine tool in neurology?
Two new studies highlight the potential of neuroimaging to aid the differential diagnosis of neurodegenerative disease, for both clinical practice and emerging trials. Although this approach holds great promis...
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Article
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
We investigated whether chromosome 9 open reading frame 72 hexanucleotide repeat expansion (C9orf72 expansion) size in peripheral DNA was associated with clinical differences in frontotemporal degeneration (FTD) ...
