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Article
TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system
TDP-43 proteinopathies are a newly categorized group of neurodegenerative diseases characterized by progressive cognitive and motor impairments associated with the abnormal accumulation and mislocalization of ...
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Article
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
Accumulation of hyperphosphorylated, ubiquitinated and N-terminally truncated TAR DNA-binding protein (TDP-43) is the pathological hallmark lesion in most familial and sporadic forms of FTLD-U and ALS, which c...
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Chapter
Central Regulation of Appetite and Satiety Behavior
To maintain constant body weight, an organism must be able to sense and counterbalance different aspects of energy homeostasis including food intake, energy stores, and energy expenditure. The central nervous ...
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Article
Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration
TAR DNA-binding protein 43 (TDP43) protein is a predominantly nuclear RNA-binding protein that is involved in multiple aspects of RNA processing, including the...
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Article
Open AccessPhosphorylated tau/amyloid beta 1-42 ratio in ventricular cerebrospinal fluid reflects outcome in idiopathic normal pressure hydrocephalus
Idiopathic normal pressure hydrocephalus (iNPH) is a potentially reversible cause of dementia and gait disturbance that is typically treated by operative placement of a ventriculoperitoneal shunt. The outcome ...
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Article
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (F...
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Article
Open AccessTopography of FUS pathology distinguishes late-onset BIBD from aFTLD-U
Multiple neurodegenerative diseases are characterized by the abnormal accumulation of FUS protein including various subtypes of frontotemporal lobar degeneration with FUS inclusions (FTLD-FUS). These subtypes ...
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Article
The neuropathology of obesity: insights from human disease
Obesity, a pathologic state defined by excess adipose tissue, is a significant public health problem as it affects a large proportion of individuals and is linked with increased risk for numerous chronic disea...
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Article
TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord
We examined the phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43) inclusions as well as neuronal loss in full-length spinal cords and five selected regions of the central nervous system from 36 patients ...
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Article
A comparison of Aβ amyloid pathology staging systems and correlation with clinical diagnosis
Current neuropathological Alzheimer’s disease (AD) criteria from the National Institute on Aging-Alzheimer’s Association (NIA-AA) incorporate two staging systems for Aβ pathology, namely the Thal Aβ phase (TA...
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Article
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated with reduced C9orf72 expression and the ...
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Article
Abnormal serine phosphorylation of insulin receptor substrate 1 is associated with tau pathology in Alzheimer’s disease and tauopathies
Neuronal insulin signaling abnormalities have been associated with Alzheimer’s disease (AD). However, the specificity of this association and its underlying mechanisms have been unclear. This study investigate...
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Article
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
C9orf72 promoter hypermethylation inhibits the accumulation of pathologies which have been postulated to be neurotoxic. We tested here whether C9orf72 hypermethylation is associated with prolonge...
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Article
Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
Frontotemporal lobar degeneration (FTLD) comprises two main classes of neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (i.e., proteinopathies) including tauopathies (i.e., F...
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Article
Erratum to: Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)
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Article
Open AccessCommon neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as co...
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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) ...
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Article
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy
Pathological accumulation of abnormally phosphorylated tau protein in astrocytes is a frequent, but poorly characterized feature of the aging brain. Its etiology is uncertain, but its presence is sufficiently ...
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Article
Pathological α-synuclein distribution in subjects with coincident Alzheimer’s and Lewy body pathology
We investigated the distribution patterns of Lewy body-related pathology (LRP) and the effect of coincident Alzheimer disease (AD) pathology using a data-driven clustering approach that identified groups with ...
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Article
Multimodal evaluation demonstrates in vivo 18F-AV-1451 uptake in autopsy-confirmed corticobasal degeneration
