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Mechanisms of node of Ranvier assembly
The nodes of Ranvier have clustered Na + and K + channels necessary for rapid and efficient axonal action potential conduction. However, detailed...
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Sarcoidosis
Sarcoidosis is a multisystemic granulomatous disease of unknown cause that most commonly involves not only the lungs but also the skin (around...
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Diagnosis and management of autoimmune diseases in the ICU
Autoimmune diseases encompass a broad spectrum of disorders characterized by disturbed immunoregulation leading to the development of specific...
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Clinical Approach to Autoimmune and Inflammatory Ophthalmologic Disease
Affliction of the afferent visual system, in particular acute optic neuritis (AON), is commonly seen in multiple sclerosis (MS) and other...
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Overview of Ataxia in Childhood
In children, a wide number of hereditary or acquired diseases may cause ataxia. The prevalence varies significantly in causes between pediatric and...
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Electromyography in the Spine Patient
Electromyography (EMG) is a used to diagnose and characterize radiculopathy and other neuromuscular conditions in the spine population. This chapter...
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Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center
IntroductionNerve biopsy has been widely used to investigate patients with peripheral neuropathy, and in many centers, it is still a useful...
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Amyloidosis
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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Herpesvirus Infections of the Central Nervous System
Double-stranded DNA herpesviruses are capable of establishing latency and reactivation. They are subdivided into eight human herpesviruses (HHVs):...
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Neuropathology of Neurocutaneous Disorders
Neurocutaneous disorder is an umbrella term for a large group of hereditary and sporadic diseases involving both the skin and the nervous system. The...
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Absolute Glaucoma
Glaucoma is a generic term used to describe diseases in which the intraocular pressure is at a level sufficient to cause damage to the tissues within...
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AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for...
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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar...
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Diagnostic Tests in the Acute Setting: Strengths and Limitations
Diagnostic procedures for the manifestations of neuromuscular diseases (NMD) as emergencies or in critically ill patients in ICU, as well as for the...
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Chiasmal Disorders
The chiasm is literally and figuratively a crossroads of the visual system. The anatomy, relations, and function of the chiasm make it an important...
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Role of Cytoskeletal Elements in Regulation of Synaptic Functions: Implications Toward Alzheimer’s Disease and Phytochemicals-Based Interventions
Alzheimer’s disease (AD), a multifactorial disease, is characterized by the accumulation of neurofibrillary tangles (NFTs) and amyloid beta (Aβ)...
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Peripheral Neuropathy in Rheumatologic Disorders
The peripheral neuropathies (PNs) are a broad group of disorders that affect the axons, myelin sheath, anterior horn cells, and/or sensory neurons in...