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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
The basal ganglia is a collective group of structures in the brain. These include the striatum, (composed of the putamen and caudate nucleus), globus pallidus, substantia nigra, and the subthalamic nucleus. Along with other structures, the basal ganglia are part of a neural circuit that is integral to voluntary motor function. [1]
The most consistent finding are widespread calcifications, which involve the white matter of the cerebrum mostly adjacent to the junction with the grey matter, the thalami, the basal ganglia and the brainstem. [1] [2] The white matter of the cerebellum and the dentate nuclei are less often involved. However, the brain may appear normal in the ...
The basal ganglia (BG) or basal nuclei are a group of subcortical nuclei found in the brains of vertebrates. In humans and other primates , differences exist, primarily in the division of the globus pallidus into external and internal regions, and in the division of the striatum .
Basal ganglia calcification, cerebellar atrophy, ... Treatment for MELAS currently is 1. support the good mitochondria that is left with a mito cocktail and 2. avoid ...
Calcification [55–95%] of the cerebral cortex (especially depths of sulci, basal ganglia, cerebellum, thalamus; also of the arteries, arterioles, and capillaries). Vascular changes - String vessels, especially in areas of Metachromatic leukodystrophy, calcification in leptomeningeal vessels, accelerated atherosclerosis and arteriolosclerosis.
Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. [1]
The onset of this disease is typically between 54 – 66 years of age and the first symptoms are usually mental deterioration or stroke. [4] The vessels that supply the subcortical white matter come from the vessels that support basal ganglia, internal capsule, and thalamus. It is described as its own zone by and susceptible to injury.