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4.1 Differential diagnosis. 4.2 Investigations. 5 Treatment. ... Death usually occurs in the late 40s or early 50s. ... Calcification of the basal ganglia is common.
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]
Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. [1] CBD symptoms typically begin in people from 50 to 70 years of age, and typical survival before death is eight years.
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
4.1 Differential diagnosis. ... basal ganglia, ... for HDLS patients is 44.3 years with a mean disease duration of 5.8 years and mean age of death at 53.2 years. ...
The metabolic activity of dopamine transporters in the basal ganglia can be directly measured with positron emission tomography and single-photon emission computed tomography scans. It has shown high agreement with clinical diagnoses of PD. [115] Reduced dopamine-related activity in the basal ganglia can help exclude drug-induced Parkinsonism.
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 ...