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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]
MPAN might be suspected with typical presentation and findings on MRI (Magnetic Resonance Imaging), these include evidence of iron deposition in the brain, particularly in the basal ganglia (globus pallidus and substantia nigra). [1] [3] The diagnosis is confirmed by genetic testing identifying harmful variant(s) in C19orf12. [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]
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 ...
MRI image shows iron deposits in the basal ganglia, the so-called eye-of-the-tiger sign (T2w GRASE sequence). A neurological examination would show evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. If other family members are also affected, this may help determine the diagnosis.
Superficial hemosiderosis of the central nervous system is a disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid. This occurs via the deposition of hemosiderin in neuronal tissue, and is associated with neuronal loss, gliosis, and demyelination of neuronal cells.
Excessive accumulation of hemosiderin is usually detected within cells of the mononuclear phagocyte system (MPS) or occasionally within epithelial cells of the liver and kidney. Several disease processes result in deposition of larger amounts of hemosiderin in tissues; although these deposits often cause no symptoms, they can lead to organ damage.
T2*-weighted imaging of the brain 26 weeks after subarachnoid hemorrhage, showing hemosiderin deposits as hypointense areas. [1] T 2 *-weighted imaging is an MRI sequence to quantify observable or effective T 2 (T2* or "T2-star"). In this sequence, hemorrhages and hemosiderin deposits become hypointense. [2]