Chapter 32 Clinical neuropathology of brain tumors
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Michal Bienkowski, Julia Furtner, Johannes A. Hainfellner Brain tumor typing is a major task in the daily practice of clinical neuropathologists. For more than 100 years, brain tumors have been classified on the basis of a histogenetic concept, with the definition of more than 120 brain tumor entities over time. In the past decades, biomedical research on brain tumors has led to the identification of clinically meaningful diagnostic, prognostic, and predictive molecular markers. Taking this progress into account, the 2016 update of the...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 31 Diseases of the peripheral nerves
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Istvan Katona, Joachim Weis This chapter reviews the diseases of the peripheral nerves from a neuropathologic point of view, with a special focus on specific morphologic changes, and includes a summary of the histopathologic methods available for their diagnosis. As the rate of obesity and the prevalence of type 2 diabetes increase, diabetic neuropathy is the most common cause of peripheral neuropathy. Many systemic disorders with metabolic origin, like amyloidosis, hepatic failure, vitamin deficiencies, uremia, lipid metabolism disorde...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 30 Diseases of the skeletal muscle
The objective of this chapter is to give an overview on morphology of the most frequent and recently identified muscle conditions, stressing the importance that only a combined analysis of clinical findings, muscle histology, and specific ancillary investigations is effective in reaching a precise diagnosis and orienting therapy. (Source: Handbook of Clinical Neurology)
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 29 Spinal cord
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Umberto de Girolami, Tejus A. Bale We first present a brief historic review of developments in the understanding of spinal cord clinical neuroanatomy and neurophysiology over the past 200 years. We then discuss the technical aspects that apply to the examination of the human spinal cord giving details on the interrelations between the spinal cord and the overlying structures, including the meninges and vertebrae. The subsequent discussion focuses on diseases of the spinal cord. Diseases that affect the spinal cord are vascular disease, ...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 28 Prion diseases
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): James W. Ironside, Diane L. Ritchie, Mark W. Head The human prion diseases comprise Creutzfeldt–Jakob disease, variably protease-sensitive prionopathy, Gerstmann–Sträussler–Scheinker disease, fatal familial insomnia, and kuru. Each is a uniformly fatal rare neurodegenerative disease in which conformational changes in the prion protein are thought to be the central pathophysiologic event. The majority of cases of human prion diseases occur worldwide in the form of sporadic Creutzfeldt–Jakob disease and a minority of around 10â€...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 27 Trinucleotide repeat disorders
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): W.F.A. Den Dunnen Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances. This group can be divided into CAG- versus non-CAG-repeat diseases. Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Hunti...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 26 Amyotrophic lateral sclerosis and non-tau frontotemporal lobar degeneration
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Tibor Hortobágyi, Nigel J. Cairns Amyotrophic lateral sclerosis (ALS) is the major motor neuron disorder. The hallmark features are progressive, irreversible motor neuron loss leading to denervation atrophy of muscles and death, usually within 5 years of disease onset. The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43, or FUS; rarely the disease is caused by mutation of the respective genes. Frontotemporal lobar degeneration (FTLD) is genetically, neuropathologically, and clinically heterogeneous and may present a...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 25 Tauopathies
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Gabor G. Kovacs Tauopathies are neurodegenerative disorders characterized by the deposition of abnormal tau protein in the brain. The spectrum of tau pathologies expands beyond the traditionally discussed disease forms like Pick disease, progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease. Emerging entities and pathologies include globular glial tauopathies, primary age-related tauopathy, which includes neurofibrillary tangle dementia, chronic traumatic encephalopathy (CTE), and aging-related tau ast...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 24 Alpha-synucleinopathies
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Irina Alafuzoff, Päivi Hartikainen A neurodegenerative disorder displaying an altered α-synuclein (αS) in the brain tissue is called α-synucleinopathy (αS-pathy) and incorporates clinical entities such as Parkinson disease (PD), PD with dementia, dementia with Lewy bodies, and multiple-system atrophy. Neuroradiologic techniques visualizing αS pathology in the brain or assays of αS in the cerebrospinal fluid or blood are probably available and will be implemented in the near future but currently the definite diagnosis of αS-pathy...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 23 Alzheimer disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Ana Laura Calderon-Garcidueñas, Charles Duyckaerts Alzheimer disease neuropathology is characterized by the extracellular accumulation of Aβ peptide and intracellular aggregation of hyperphosphorylated tau. With the progression of the disease, macroscopic atrophy affects the entorhinal area and hippocampus, amygdala, and associative regions of the neocortex. The locus coeruleus is depigmented. The deposition of Aβ is first made of diffuse deposits. Amyloid focal deposits constitute the core of the senile plaque which also comprises a...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 22 Genetics of neurodegenerative diseases: an overview
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Lasse Pihlstrøm, Sarah Wiethoff, Henry Houlden Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes of heritable disease and as modifiers of susceptibility to complex, sporadic disorders. Over the last two decades, the identification of disease genes and risk loci has led to some of the greatest advances in medicine and invaluable insights into pathogenic mechanisms and disease pathways. Large-scale research efforts, novel study designs, and advances in methodology are rapidly expanding our unders...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 21 Concepts and classification of neurodegenerative diseases
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Gabor G. Kovacs Neurodegenerative diseases are disorders characterized by progressive loss of neurons associated with deposition of proteins showing altered physicochemical properties in the brain and in peripheral organs. Molecular classification of neurodegenerative disease is protein-based. This emphasizes the role of protein-processing systems in the pathogenesis. The most frequent proteins involved in the pathogenesis of neurodegenerative diseases are amyloid-β, prion protein, tau, α-synuclein, TAR-DNA-binding protein 43kDa, and f...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 20 Immune-mediated disorders
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Romana Höftberger, Hans Lassmann Paraneoplastic and autoimmune encephalitis comprise a group of immune-mediated disorders that are associated with different immune effector mechanisms. Classic paraneoplastic neurologic syndromes are triggered by an antitumor immune response. The disease is considered to result from a T-cell response; in addition, patients harbour high titers of autoantibodies against intracellular antigens that are considered as epiphenomenon but are useful diagnostic markers. Neuropathology consists of T-cell-dominate...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 19 Inflammatory demyelinating diseases of the central nervous system
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Romana Höftberger, Hans Lassmann Inflammatory demyelinating diseases are a heterogeneous group of disorders, which occur against the background of an acute or chronic inflammatory process. The pathologic hallmark of multiple sclerosis (MS) is the presence of focal demyelinated lesions with partial axonal preservation and reactive astrogliosis. Demyelinated plaques are present in the white as well as gray matter, such as the cerebral or cerebellar cortex and brainstem nuclei. Activity of the disease process is reflected by the presence ...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 18 Parasitic and fungal infections
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Nikolaus Deigendesch, Jean Costa Nunez, Werner Stenzel Parasitic infections of the central nervous system (CNS) comprise a plethora of infectious agents leading to a multitude of different disease courses and thus diagnostic and therapeutic challenges. The prevalence of different pathogens is basically dependent on geographic and ethnic backgrounds, its infectious route frequently involving a third party, such as flies or domestic animals. The present review focuses on cerebral malaria due to Plasmodium falciparum infection, and Toxopl...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
