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Neurodegeneration with brain iron accumulation (NBIA) is a heterogenous group of degenerative diseases presenting with movement disorders. Causative mutations have been identified, first in PANK2 , encoding pantothenate kinase 2, and later in PLA2G6 , a calcium independent phospholipase A2 enzyme.1 2 NBIA types 1 and 2 are the denominations used to label these two entities. The clinical picture includes pyramidal syndrome, movement disorders, cerebellar dysfunction, opthalmoparesis and ocular disturbance. A neuroradiological hallmark of NBIA type 1 is the “eye-of-the-tiger” sign, characterised by bilateral areas of hyperintensity surrounded by a ring of hypointensity in the medial globus pallidus on T2-weighted MRI. Radiological findings in NBIA type 2 comprise cortical atrophy in the cerebellum, increased iron deposition in globus pallidi and substantia nigra seen as reduced signal on T2 FLAIR and T2* gradient and diffusion weighted MRI sequences, reduced volume of the optic chiasm and optic nerves and cerebral white matter changes. In this paper, we report clinical, neurological and molecular findings …

Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI