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The discovery of neuroferritinopathy was mediated by a study done on a large family suffering from a dominantly inherited basal ganglia disease. [1] It was reported that the disease was instigated by a mutation on the ferritin light chain polypeptide (FTL1) and was found to cause iron accumulation in the brain and neurodegeneration. [ 1 ]
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]
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.
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]
Loss of the sense of taste or smell are among the earliest and most common symptoms of COVID-19. Roughly 81% of patients with clinical COVID-19 experience disorders of smell (46% anosmia, 29% hyposmia, and 6% dysosmia). [1] Disorders of taste occur in 94% of patients (ageusia 45%, hypogeusia 23%, and dysgeusia 26%).
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare disease that affects the nervous system, particularly the basal ganglia in the brain. [4] It is a treatable neurometabolic disorder with autosomal recessive inheritance.
The coronavirus can damage the heart, according to a major new study which found abnormalities in the heart function of more than half of patients. The coronavirus can damage the heart, according ...
Basal ganglia disease is a group of movement disorders that result from either excessive output from the basal ganglia to the thalamus – hypokinetic disorders, or from insufficient output – hyperkinetic disorders. Hypokinetic disorders arise from an excessive output from the basal ganglia, which inhibits the output from the thalamus to the ...