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Neuropathology of Multiple System Atrophy, a Glioneuronal Degenerative Disease
Multiple system atrophy (MSA) is a fatal disease characterized pathologically by the widespread occurrence of aggregated α-synuclein in the oligodendrocytes referred to as glial cytoplasmic inclusions (GCIs). ...
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Article
Open AccessAuthor Correction: Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases
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Article
Open AccessDevelopment and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases
The abnormal aggregation and accumulation of alpha-synuclein (aSyn) in the brain is a defining hallmark of synucleinopathies. Various aSyn conformations and post-translationally modified forms accumulate in pa...
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Open AccessEpigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis
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Open AccessEarly presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?
Lower urinary tract (LUT) dysfunction presents early in multiple system atrophy (MSA), usually initially as urinary urgency, frequency and incontinence, and voiding difficulties/urinary retention becomes appar...
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Article
Open AccessWhite matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy
Multiple system atrophy (MSA) is a fatal late-onset neurodegenerative disease. Although presenting with distinct pathological hallmarks, which in MSA consist of glial cytoplasmic inclusions (GCIs) containing f...
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Article
Open AccessPhosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions
Amyotrophic lateral sclerosis (ALS) is characterized pathologically by the occurrence of phosphorylated TDP-43 (pTDP-43)-immunoreactive neuronal and glial inclusions in the central nervous system. Recent studi...
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Open AccessFilamentous aggregations of phosphorylated α-synuclein in Schwann cells (Schwann cell cytoplasmic inclusions) in multiple system atrophy
The histological hallmark of multiple system atrophy (MSA) is the presence of filamentous aggregations of phosphorylated α-synuclein in oligodendrocytes, referred to as glial cytoplasmic inclusions (GCIs). Alt...
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Article
Open AccessPhosphorylation of serine 349 of p62 in Alzheimer’s disease brain
Extensive research on p62 has established its role in oxidative stress, protein degradation and in several diseases such as Paget’s disease of the bone, frontotemporal lobar degeneration and amyotrophic latera...
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Article
A family with IVIg-responsive Charcot–Marie–Tooth disease
We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot–Marie–Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complain...
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Article
The Lewy Body in Parkinson’s Disease and Related Neurodegenerative Disorders
The histopathological hallmark of Parkinson’s disease (PD) is the presence of fibrillar aggregates referred to as Lewy bodies (LBs), in which α-synuclein is a major constituent. Pale bodies, the precursors of ...
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Article
Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations
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Hippocampal sclerosis with four-repeat tau-positive round inclusions in the dentate gyrus: a new type of four-repeat tauopathy
Hippocampal sclerosis is defined as selective neuronal loss and gliosis of the hippocampus with heterogeneous etiologies, including neurodegenerative tauopathies. We report a 78-year-old woman who presented wi...