This observation of varying iron concentrations is a possible explanation for the correlation between movement disorders and the iron imbalance within the central nervous system. Diagnosis
Neuroferritinopathy is primarily diagnosed in older adults, specifically in adults affected by Alzheimers disease or Parkinsons disease, as iron accumulates in the brain over long periods of time. Neuroferritinopathy is diagnosed using either neuroimaging techniques, physiological tests, or genetic testing. Classification
Neuroferritinopathy was originally described with hallmark features of neurodegeneration and iron accumulation in the brain, leading it to be classified with other neurodegeneration with brain iron accumulation (NBIA) disorders which share similar symptoms and imaging findings. Over time single-gene causes have been found for many NBIA disorders, like neuroferritinopathy. Before the availability of genetic testing, all such disorders were considered together and known as Hallervorden-Spatz syndrome, a term which is no longer used due to the Nazi party ties of the namesakes. 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. Neuroferritinopathy is classified under the first category. Neuroferritinopathy is classified as a late-onset basal ganglia disease and is a dominantly inherited neurodegenerative disease. 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 gene. Neuroimaging
Neuroferritinopathy is most commonly diagnosed using MRI and other neuroimaging techniques.
Symptoms affecting movement (dystonia) have also been treated with L-Dopa, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, and deanol. Parkinsonian symptoms were not decreased by L-Dopa. Iron supplements should be avoided. Epidemiology
Neuroferritinopathy was first discovered in 2001, with its first case being reported in Cumbria from Northern England. The discovery of neuroferritinopathy was mediated by a study done on a large family suffering from a dominantly inherited basal ganglia disease. The disease was reported to be instigated by a mutation on the ferritin light chain polypeptide, (FTL1), and was found to cause iron accumulation in the brain and neurodegeneration. Following in suit of the location of the first case of Neuroferritinopathy, the majority of patients diagnosed with the disease have also been found in Northern and Northeast England. The localization of the majority of cases to Northern and Northeast England suggests that a common ancestor may be responsible for many or possibly all cases. Despite there being fewer than 100 cases reported and the diseases general location of Northern and Northeast England, multiple more cases of neuroferritinopathy have been diagnosed around the rest of the world in recent years. Research
New potential treatment options being researched are Venesection (removing red blood cells), Iron chelation with deferiprone, and Coenzyme Q10 (ubiquinone). References


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