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Protein Misfolding Cyclic Amplification
Prion diseases are caused by a conformational conversion of the cellular prion protein (PrPC) to a pathological conformer (PrPSc). The “prion-only”...
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Tau at the interface between neurodegeneration and neuroinflammation
Tau is an evolutionary conserved protein that promotes the assembly and stabilization of microtubules in neuronal axons. Complex patterns of...
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Aβ and Tau Prions Causing Alzheimer’s Disease
Studies show that patients with Alzheimer’s disease (AD) have both Aβ and tau prions, and thus, AD is a double-prion disease. AD patients with the...
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Blink reflex excitability in patients with Hemifacial spasm exhibiting different abnormal discharge patterns: from early isolated discharges to later grouped bursts or tonic spasms
ObjectiveWe studied blink reflex (BR) and BR excitability recovery (BRER) in patients with hemifacial spasm (HFS) exhibiting different abnormal...
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Treatment of Dystonic Pain with Botulinum Neurotoxins
Focal dystonia is a common neurological disorder which is often painful. This chapter reviews clinical features of three common and painful focal...
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Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In...
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In Vitro Amplification of Pathogenic Tau Seeds from Neurodegenerative Disease Patient Brains
Aggregated microtubule-associated protein tau (tau) is the hallmark lesion of a group of neurodegenerative diseases, termed tauopathies. Normal...
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The genetic basis of multiple system atrophy
Multiple system atrophy (MSA) is a heterogenous, uniformly fatal neurodegenerative ɑ-synucleinopathy. Patients present with varying degrees of...
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Artificial intelligence-derived neurofibrillary tangle burden is associated with antemortem cognitive impairment
Tauopathies are a category of neurodegenerative diseases characterized by the presence of abnormal tau protein-containing neurofibrillary tangles...
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Neuroimaging in Frontotemporal Dementia: Heterogeneity and Relationships with Underlying Neuropathology
Frontotemporal dementia encompasses a group of clinical syndromes defined pathologically by degeneration of the frontal and temporal lobes....
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A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework...
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Genetic factors affecting dopaminergic deterioration during the premotor stage of Parkinson disease
To estimate dopaminergic dysfunction in patients with Parkinson disease (PD) during the premotor stage and to investigate the effect of genetic...
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The Role of TDP-43 in Neurodegenerative Disease
In recent years, more and more neurodegenerative diseases, such as ALS, FTLD and AD, have been found to share a common pathological feature, which is...
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Seed amplification assay of nasal swab extracts for accurate and non-invasive molecular diagnosis of neurodegenerative diseases
Nasal swabs are non-invasive testing methods for detecting diseases by collecting samples from the nasal cavity or nasopharynx. Dysosmia is regarded...
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Connectome-based modelling of neurodegenerative diseases: towards precision medicine and mechanistic insight
Neurodegenerative diseases are the most common cause of dementia. Although their underlying molecular pathologies have been identified, there is...
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Rhombomere 1 r1
This chapter is one of the most voluminous of this book. This is due to the fact that a number of important structures are derivatives of rhombomere...
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Comparative analysis of machine learning algorithms for multi-syndrome classification of neurodegenerative syndromes
ImportanceThe entry of artificial intelligence into medicine is pending. Several methods have been used for the predictions of structured...
