<unk>  is primarily diagnosed in older adults, specifically in adults affected by Alzheimer's disease or Parkinson's disease, as iron accumulates in the brain over long periods of time.<unk>  is diagnosed using either neuroimaging techniques, physiological tests, or genetic testing. Classification All brain iron disorders were previously labeled pantothenate kinase-associated neurodegeneration formerly known as Hallervorden-Spatz syndrome, after the scientists who first discovered individuals with abnormal iron levels in 1922 (subsequently renamed after discovering their Nazi party ties). Brain iron disorders are now divided into three categories: genetic neurodegeneration with brain iron accumulation, genetic systemic iron accumulation with neurologic features, and acquired diseases associated with iron excess or iron deficiency.<unk>  is classified under the first category, genetic neurodegeneration with brain iron accumulation.<unk>  is classified as a late-onset basal ganglia disease and is a dominantly inherited neurodegenerative disease. Four different alleles are responsible for<unk> . Three arise from nucleotide insertions in the ferritin light chain (FTL) polypeptide gene while the fourth arises from a missense mutation in the FTL gene. Neuroimaging MRI<unk>  is most commonly diagnosed using MRI and other neuroimaging techniques. MRIs help identify the iron deposits in the cerebellum, basal ganglia, and motor cortex common to<unk> . MRIs of affected individuals also show mild cerebellar and cerebral atrophy, or tissue breakdown, and gas cavity formation in the putamen. Most importantly, the MRIs show misfolded ferritin proteins and iron deposits in the glial cells of the caudate, putamen, globus pallidus, cerebral cortex, thalamus, and purkinje cells, causing neuronal death in these areas. Physiological testing Blood tests usually come back normal in affected individuals, so they do not serve as a reliable means of diagnosis. Blood tests can show low serum ferritin levels. However, this is unreliable as method of diagnosis, as some patients show typical serum ferritin levels even at the latest stages of<unk> . Cerebral spinal fluid tests also are typically normal. Ferritin aggregates found in the skin, liver, kidney, and muscle tissues may help in diagnosing<unk> . More cytochrome c oxidase-negative fibers are also often found in the muscle biopsies of affected individuals. Genetic testing Genetic testing can confirm a<unk>  diagnosis. A diagnosis can be made by analyzing the protein sequences of affected individuals and comparing them to known<unk>  sequences.
Neuroferritinopathy
Aceruloplasminemia
Tauopathy
Synucleinopathy
Homeopathy
Sandhoff disease
Mitochondrial myopathy
Mitochondrial disease