Palatal tremor and cognitive decline in neuroferritinopathy

Neuroferritinopathy is a recently described autosomal dominant, adult onset, neurodegenerative disorder associated with iron accumulation, particularly in the basal ganglia.1 All patients found to date have a single adenine insertion between nucleotides 460 and 461 in exon 4 of the ferritin light chain gene. This results in a frame shift and is predicted to cause structural alteration of the polypeptide carboxy terminus. Magnetic resonance imaging of the brain shows iron accumulation, and this has been confirmed pathologically with the detection of numerous iron positive inclusions particularly in the globus pallidus. In spite of this, serum ferritin levels are found to be abnormally low or at the low end of the normal range. Patients tend to present in mid-life with a movement disorder, characterised by chorea, dystonia, and rigidity. In contrast with Hallervorden-Spatz syndrome, which is also associated with accumulation of brain iron, visual and cognitive function is preserved. Here, we report a patient with genetically proven neuroferritinopathy in which the clinical features included cognitive decline and palatal tremor. These features extend the phenotype of this condition from those previously reported. The patient was a 49 year old man who developed lingual and oral dyskinetic movements and a slurring dysarthria at the age of 37. …