Neuroferritinopathy due to mutations in the FTL gene is the only autosomal dominant form of NBIA, also known as NBIA.3 The clinical presentation is somewhat similar to Huntington’s chorea, and may present with adult-onset choreiform involuntary movements, dystonia, and may be accompanied by altered high-level cognitive hypoplasia. Dystonia often begins in the extremities and progresses to more generalized movement disorders, and most patients have specific orofacial motor dystonia associated with speech. Brain MRI shows excessive iron deposition in the basal nuclei with late cystic changes in the caudate and shell nuclei. This iron deposition can occur even in the asymptomatic phase of the disease. In addition, serum ferritin concentrations are low. In 2007, Chinnery et al. summarized the clinical features of 41 patients with the 460insA mutation in the FTL gene. The mean age of onset was 39.4 years (range 13-63), 50% had choreiform involuntary movements, 42.5% had lower limb dystonia, and 7.5% had Parkinsonian symptoms. Other clinical manifestations include writing spasms, blepharospasm, and tremor. After 5-10 years of progression, the disease manifests itself as severe asymmetric generalized dyskinesia, dystonia, dysphagia, dysphonia, and aphasia, most of which are bedridden and wheelchair-bound. Lower limb spasms, ocular symptoms, or seizures these are not apparent. The vast majority of patients had no significant affective disorder, and significant cognitive dysfunction, but speech remained disfluent. Two of the patients developed frontal/subcortical dementia within 10 years of onset. Overall, there are still many patients with subtle manifestations of emotional dysregulation and mood lability, and Chinnery et al. suggest that neuroferritin degeneration disease does not manifest only as Parkinsonian symptoms, but that cognitive changes are insignificant or mild in the early stages. Levodopa treatment for this disease is ineffective, and iron-expelling therapy has not been shown to be therapeutically effective, at least in the short term. Many of these patients are first mistaken for Huntington’s disease or admitted to psychiatry. (Brain, 2009) A word of caution: don’t just think of Huntington’s disease when you come across an adult onset, dominantly inherited, choreiform movement pattern! Perhaps it is a neuroferritin degenerative disease. Consider that many people with HD do not have prominent mental retardation and personality disorders in the early stages of the disease, so misdiagnosis is inevitable without MRI and genetic testing!