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Additional MRI findings include high T 2 signal intensity with possible swelling in basal ganglia, and abnormal diffuse involvement of the subcortical white matter, cortical, and infratentorial brain. [5] [11] Involvement in the thalami, brain stem, and cerebellum may also be observed. [11]
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 diagnosis requires the following criteria be met: [citation needed] the presence of bilateral calcification of the basal ganglia; the presence of progressive neurologic dysfunction; the absence of an alternative metabolic, infectious, toxic or traumatic cause; a family history consistent with autosomal dominant inheritance
Neuroferritinopathy is classified as a late-onset basal ganglia disease and is a dominantly inherited neurodegenerative disease. [3] Four different alleles are responsible for neuroferritinopathy. Three arise from nucleotide insertions in the ferritin light chain (FTL) polypeptide gene while the fourth arises from a missense mutation in the FTL ...
The basal ganglia are involved in hyperkinesia. The causes of the majority of the above hyperkinetic movements can be traced to improper modulation of the basal ganglia by the subthalamic nucleus. In many cases, the excitatory output of the subthalamic nucleus is reduced, leading to a reduced inhibitory outflow of the basal ganglia.
Differential diagnosis: frontal-type dementia and polycystic bone lesions in the fourth decade of life: Prognosis: ... Calcification of the basal ganglia is common.
Differential diagnosis: Dystonia: Hypokinesia is one of the classifications of movement disorders, ... The basal ganglia have been tied to the incentives behind ...
Hemiballismus or hemiballism is a basal ganglia syndrome resulting from damage to the subthalamic nucleus in the basal ganglia. [1] It is a rare hyperkinetic movement disorder, [2] that is characterized by pronounced involuntary limb movements [1] [3] on one side of the body [4] and can cause significant disability. [5]