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Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI
  1. S T Camargos1,
  2. J Gurgel-Giannetti1,
  3. A Lees2,
  4. J Hardy2,
  5. A Singleton3,
  6. F Cardoso1
  1. 1Movement Disorders Clinic, Federal University of Minas Gerais, Belo Horizonte, Brazil
  2. 2Reta Lila Weston Institute, London, UK
  3. 3Laboratory of Neurogenetics, National Institutes of Aging, National Institutes of Health, Bethesda, Maryland, USA
  1. Correspondence to Francisco Cardoso, Movement Disorders Clinic - The Federal University of Minas Gerais, Avenida Pasteur, 89/1107, Belo Horizonte, Minas Gerais 30150-290, Brazil; cardosofe{at}terra.com.br

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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 …

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