126 results found
Article
Fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X “premutation”, defined as 55-200 CGG repeats in the 5’-untranslated region of the FMR1 gene 1. The premutation can expand in subsequent generations (during oogenesis) to...
Article
HTLV-1-associated myelopathy
HTLV-1-associated myelopathy, also known as tropical spastic paraparesis, is primarily seen in Japan, Melanesia and the Caribbean and presents with chronic spastic paraparesis.
Terminology
This condition has been independently described in Japan (HTLV-1 associated myelopathy) and in the Caribb...
Article
CNS cryptococcosis
CNS cryptococcosis results from infection of the central nervous system with the yeast-like fungus Cryptococcus neoformans. It is the most common fungal infection and second most common opportunistic infection of the central nervous system.
For a general discussion of infection with this organi...
Article
Cerebral small vessel disease
Cerebral small vessel disease, also known as cerebral microangiopathy, is an umbrella term for lesions in the brain attributed to pathology of small arteries, arterioles, capillaries, venules, or small veins. It is the most common cause of vascular dementia/cognitive impairment and is a major ca...
Article
Synucleinopathy
Synucleinopathies are a subgroup of neurodegenerative diseases, characterized by impairment of alpha-synuclein metabolism, resulting in abnormal intracellular deposits. They can further be divided into those with and those without the formation of Lewy bodies, although it should be noted that so...
Article
McLeod syndrome
McLeod syndrome, also known as McLeod phenomenon is a rare X-linked syndrome caused by a mutation in the XK gene that results in hematological abnormalities and late-onset, slowly progressive degeneration of a variety of tissues including the brain, peripheral nerves, muscle and heart 1. It sho...
Article
Autoimmune glial fibrillary acid protein (GFAP) astrocytopathy
Autoimmune glial fibrillary acid protein (GFAP) astrocytopathy, or simply GFAP astrocytopathy, is a rare inflammatory central nervous system (CNS) disorder.
Epidemiology
Given the rarity of the condition, epidemiological data pertaining to autoimmune GFAP astrocytopathy are not well establishe...
Article
Central nervous system curriculum
The central nervous system curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core central nervous system knowledge.
Definition
Topics pertaining to the intracranial content (brain, pituitary, dura, intracranial vasculatures). There will be...
Article
Superficial siderosis of the central nervous system
Superficial siderosis of the central nervous system refers to a condition resulting from deposition of hemosiderin along the leptomeninges and subpial surfaces, particularly infratentorially, with eventual neurological dysfunction, presumably due to a source of slow and chronic/recurrent subarac...
Article
Alzheimer disease
Alzheimer disease is a common neurodegenerative disease, responsible for 60-80% of all dementias, and imposing a significant burden on developed nations. It is associated with an accumulation and deposition of cerebral amyloid-β (Aβ) and is the most common cerebral amyloid deposition disease.
...
Article
Progressive multifocal leukoencephalopathy
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease which results from the reactivation of John Cunningham virus (JC virus) infecting oligodendrocytes in patients with compromised immune systems.
It is considered the most common clinical manifestation of JC virus infecti...
Article
Interseptal distance
The interseptal distance (ISD) is a measurement used to assess septal area atrophy as a marker for neurodegenerative conditions in patients with memory problems 1.
It is proposed that atrophy of the septal nuclei can commonly be seen in conditions associated with hippocampal atrophy, particular...
Article
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the accumulation of cerebral amyloid-β (Aβ) in the tunica media and adventitia of leptomeningeal and cortical vessels of the brain. The resultant vascular fragility tends to manifest in normotensive elderly patients as lob...
Article
Arteriosclerosis
Arteriosclerosis is defined by thickening and loss of elasticity of the arterial walls.
There are three patterns of arteriosclerosis:
atherosclerosis: large and medium-sized arteries
Mönckeberg medial calcific sclerosis: muscular arteries
arteriolosclerosis: small arteries and arterioles
At...
Article
Leukodystrophies
The leukodystrophies are a heterogeneous group of disorders that primarily affect the white matter of the central nervous system. They are particularly encountered in childhood as many are genetically determined and represent abnormalities in white matter metabolism. A number of leukodystrophies...
Article
Fahr syndrome
Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy.
It can be either primary (usually autosomal dominant) or se...
Article
International panel for NMO diagnosis criteria
The 2015 International Panel for NMO Diagnosis criteria is, as the name implies, a set of criteria used to diagnose neuromyelitis optica spectrum disorder (NMOSD) 1. They are based on a combination of clinical, laboratory, and neuroimaging findings.
Criteria
Diagnostic criteria for NMOSD with ...
Article
Hot cross bun sign (pons)
The hot cross bun sign refers to the MRI appearance of the pons when T2 hyperintensity forms a cross on axial images, representing selective degeneration of transverse pontocerebellar tracts and median pontine raphe nuclei 1.
It has been described in a variety of neurodegenerative and other con...
Article
Propionic acidemia
Propionic acidemia is a rare organic acidemia caused by a deficiency in the enzyme propionyl coenzyme A carboxylase.
Epidemiology
Propionic acidemia has an incidence of around 1 in 150,000 in the general population 1.
Clinical presentation
Around 80% of children with propionic acidemia wi...
Article
Interpeduncular angle
The interpeduncular angle is defined as the angle formed by the posterior half of the cerebral peduncles on axial images. The interpeduncular angle has been proposed as a sensitive and specific measure of intracranial hypotension (reduced) and progressive supranuclear palsy (PSP) (increased)1,2....