Autoimmune Encephalitis: GFAP, DPPX, Other

Paraneoplastic (classic) encephalitis syndromes are commonly associated with, but often present before the diagnosis of, an underlying neoplasm, most commonly small cell lung cancer (SCLC), lymphoma, thymoma or various other neoplasms. These are T-cell medicated diseases that rapidly produce neuronal dysfunction that is usually irreversible; the syndromic antibody is typically not pathogenic. In contrast, the more recently described autoimmune encephalitis syndromes are associated with pathogenic antibodies that target cell surface or synapse proteins, are less commonly associated with an underlying neoplasm, and are much more treatment-responsive than the "paraneoplastic" category. The rate of these autoimmune encephalitidies appears to be increasing over time.SMm

Autoimmune Encephalitis: GFAP, DPPX, Other New Autoimmune Syndromes

Paraneoplastic (classic) encephalitis syndromes are commonly associated with, but often present before the diagnosis of, an underlying neoplasm, most commonly small cell lung cancer (SCLC), lymphoma, thymoma or various other neoplasms. These are T-cell medicated diseases that rapidly produce neuronal dysfunction that is usually irreversible; the syndromic antibody is typically not pathogenic. In contrast, the more recently described autoimmune encephalitis syndromes are associated with pathogenic antibodies that target cell surface or synapse proteins, are less commonly associated with an underlying neoplasm, and are much more treatment-responsive than the "paraneoplastic" category. The rate of these autoimmune encephalitidies appears to be increasing over time.SMm

American Perspective - It Could Be MOG

Myelin oligodendrocyte glycoprotein associated disease (MOGAD) is a recently defined distinct syndrome that often manifests as optic neuritis, longitudinally extensive myelitis, acute disseminated encephalomyelitis (ADEM, especially in children) or cortical encephalitis. The term neuromyelitis optica (NMO) has been applied to the clinical phenotype of longitudinally extensive optic neuritis without or without longitudinally extensive transverse myelitis (which may occur in both aquaporin-4 (AQP4) and MOG positivity), while NMO spectrum disease (NMOSD) encompasses a wider spectrum of features, often occurring in the presence of the aquaporin-4 antibody; we will adhere to a antibody-based nomenclature to avoid confusion

How to Capture Disease Activity in the Longitudinal Follow-Up of Optic Neuropathies?

Optic neuropathy is a common neuro-ophthalmic diagnosis. Although it is often easy enough to recognize and anatomically localize in its typical forms, it is more challenging to precisely follow for any significant change over time. Many of the tools we use to evaluate and follow optic nerve function are psychophysical such as acuity and perimetry, and accordingly suffer from subjectivity and variability-related errors. The pupil is useful in optic nerve assessment, and although objectively judged by the physician, it is infrequently quantified, and thus less suitable as a long-term follow up marker. Imaging and electrophysiology provide objective metrics for optic nerve anatomy and physiology, but may be cumbersome, expensive, or demonstrate unfavorable sensitivity, specificity and variability across clinics and visits. There is no perfect or gold standard clinical measure of optic nerve function, and the clinician must rely upon different combinations of these tools in individual patients to reliably detec meaning visual change

Walsh & Hoyt: Familial Creutzfeldt-Jakob Disease

The clinical features of familial CJD (fCJD) are indistinguishable from those of sCJD, including the visual manifestations. Homonymous visual field defects occur in some patients with fCJD, as does cerebral blindness. Nicholl et al. described a family with a 144base pair insertion (6octapeptide repeat) in whom the initial presentation of CJD was visual disturbance and unsteadiness. The propositus of the family was only able to recognize light and dark at the time of his admission 2 months after symptoms began; cognitive decline and myoclonic jerks followed shortly thereafter. An EEG revealed typical synchronous triphasic discharges, and death occurred 1 month after admission. Bertoni et al. described supranuclear paralysis of vertical gaze in several patients with familial CJD who had a mutation at codon 200. Among the patients described by Collinge et al., one patient was said to have had ""pale optic discs"" and perhaps a right homonymous hemianopia. Another patient had ""twitching of the eyelids,"" whereas a third patient had ""blepharoclonus."" A fourth patient was unable to complete tasks, particularly those requiring ""visuospatial skills."" Although these investigators did not describe any specific disorders of eye movement in any of the affected family members, a variety of disturbances of fixation, pursuit, and saccades were likely present in most of them as well as in the affected patients reported by Capellari and by Poulter et al

The Neurobiology of Non-Organic DisordersfMRI/PET/SPECT

Functional disorders are common in clinical practice; indeed, it has been estimated that 20% of outpatient neurologic encounters harbor unexplained medical symptoms. Such disorders are also common in ophthalmology clinics, where 1-5% of patients manifest medically unexplained visual loss, and such impairments run a chronic course in up to 50% of patients. Accordingly, neuro-ophthalmology is often the crossroads for functional disorders within these specialties. Despite their frequency, these disorders are poorly understood

Walsh & Hoyt: Genetic Human Prion Disease

Approximately 1015% of human prion diseases are genetic or inherited, and associated with an identifiable defect in the PRNP gene, for an overall incidence of 1 in 10 million. This figure may grow with increasing genetic knowledge and the greater recognition of disease in individuals with a negative family history. In one survey of 57 patients with CJD, six of the nine patients with PrP gene mutations reported a negative family history. Penetrance of the autosomal-dominant prion diseases appears to be complete and age-dependent. The three main phenotypes that comprise the human familial prion diseases are familial CJD (fCJD), Gerstmann-Straussler-Scheinker (GSS) disease, and fatal familial insomnia (FFI)

Multiple Sclerosis: Epidemiology and Genetics

The study of MS epidemiology has occupied neuro-epidemiologists for several decades. Recently changing concepts have begun to enter the literature and contributed to evolving theories of MS pathophysiology