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. Genetic tests can confirm an abnormal gene causing the disease. However, this test is not yet widely available. Other movement disorders and diseases must be ruled out. Individuals exhibiting any of the above listed symptoms are often tested using MRI (Magnetic Resonance Imaging) for a number of neuro-related disorders. An MRI usually shows iron deposits in the basal ganglia. Development of diagnostic criteria continues in the hope of further separating<unk>  from other forms of neurodegenerative diseases featuring NBIA. Neuropathology Microscopic features of<unk>  include high levels of iron in the globus pallidus and the pars reticulata of substantia nigra, evident as a characteristic rust-brown discoloration in a pattern called the eye-of-the-tiger sign; lipofuscin and neuromelanin concentrated in the iron-accumulating areas; oval, nonnucleated structures representing swollen axons whose cytoplasm swells with vacuoles, referred to as spheroids, axon schollen, or neuroaxonal dystrophy; and Lewy bodies.
Pantothenate kinase-associated neurodegeneration
Cerebral creatine deficiency
Neuronal ceroid lipofuscinosis
N-Acetylglutamate synthase deficiency
Autoimmune GFAP astrocytopathy
Dopamine beta hydroxylase deficiency
Glycogen storage disease
Lysosomal storage disease