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Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins

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References

  1. 1.

    Gregory A, Hayflick S (2013) Neurodegeneration with brain iron accumulation disorders overview (Internet). In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (eds) Gene reviews. University of Washington, Seattle, pp 1993–2013

  2. 2.

    Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Hayflick SJ (2012) Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 33(3):407–414

  3. 3.

    Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Dandu VH (2013) Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 136(6):1708–1717

  4. 4.

    Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL (2016) WDR45 mutations in Rett (-like) syndrome and developmental delay: case report and an appraisal of the literature. Mol Cell Probes 30(1):44–49

  5. 5.

    Dufke A, Grasshoff U, Dufke C, Kalscheuer V, Schroeder C, Beck-Wödl S et al (2014) NGS based whole X-exome analysis re-veals a familial WDR45 missense mutation in 3 males with intellectual disability and brain iron accumulation (ESHG Abstract P08.53s). Eur J Hum Genet 22(suppl):161

  6. 6.

    Harik S, Dandu V, Angtuaco E, Hayflick S (2013) Phenotypic differences in identical twins with mutated WDR45, a newly discovered X-chromosome gene mutation which causes neurodegeneration with brain iron accumulation (NBIA)(P03. 052). Neurology 80(7 Supplement):03–052

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Author information

Correspondence to Rui Araújo.

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The authors declare that they have no competing interests.

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Video 1: Twin 1. Twin 1 displaying gait with slightly bent knees, inward deviation of the feet, and stereotypies (MP4 30433 kb)

Video 2: Twin 2. Twin 2 with stereotypies, immature behavior, vocal and motor stereotypies and risus sardonicus (MP4 28744 kb)

Video 1: Twin 1. Twin 1 displaying gait with slightly bent knees, inward deviation of the feet, and stereotypies (MP4 30433 kb)

Video 2: Twin 2. Twin 2 with stereotypies, immature behavior, vocal and motor stereotypies and risus sardonicus (MP4 28744 kb)

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Araújo, R., Garabal, A., Baptista, M. et al. Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins. J Neurol 264, 1020–1022 (2017). https://doi.org/10.1007/s00415-017-8475-2

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Keywords

  • Risperidone
  • Substantia Nigra
  • Intellectual Disability
  • Cerebral Peduncle
  • Halo Sign