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Pantothenate Kinase-Associated Neurodegeneration

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Movement Disorders Curricula

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Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare clinically complex autosomal recessive genetic disorder due to PANK2 gene mutations. It is one of the syndromes with neurodegeneration with brain iron accumulation (NBIA). Onset is usually in early childhood. Typical clinical features that comprise dystonia, spasticity, retinitis pigmentosa, and pallidal hypointensities with a central area (eye of the tiger sign) on magnetic resonance imaging may be the diagnostic clue. Diagnostic genetic testing is available. Therapy remains symptomatic including drugs, deep brain stimulation, and supportive therapies. Reports on chelating therapies are controversial. A placebo-controlled randomized trial is on the way.

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Authors and Affiliations

  1. Department of Neurology, University of München and University of Kiel, Feodor-Lynen-Str 19, München (Munich), 81377, Germany

    Susanne A. Schneider

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  1. Susanne A. Schneider
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Correspondence to Susanne A. Schneider .

Editor information

Editors and Affiliations

  1. Faculty of Medicine, Transilvania University, Brasov, Romania

    Cristian Falup-Pecurariu

  2. Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Medicine, Lisbon, Portugal

    Joaquim Ferreira

  3. National Center of Epidemiology and CIBERNED, Carlos III Institute of Health, Madrid, Spain

    Pablo Martinez-Martin

  4. Centre of Excellence, King’s College London, National Parkinson Foundation Centre of Excellence King’s College, London, United Kingdom

    Kallol Ray Chaudhuri

1 Electronic Supplementary Material

Below is the link to the electronic supplementary material.

The video shows a 21-year-old patient with molecularly proven PKAN (c.1253C>T, homozygous). There is generalized dystonia with dystonic grimacing and dystonic eye blinking when performing repetitive movements which are impaired on the right more than the left. There is dystonic posturing of her right leg and foot when walking. She has dysarthria and personality changes (MOV 5245 kb)

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Schneider, S.A. (2017). Pantothenate Kinase-Associated Neurodegeneration. In: Falup-Pecurariu, C., Ferreira, J., Martinez-Martin, P., Chaudhuri, K. (eds) Movement Disorders Curricula. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1628-9_38

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  • DOI: https://doi.org/10.1007/978-3-7091-1628-9_38

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  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-1627-2

  • Online ISBN: 978-3-7091-1628-9

  • eBook Packages: MedicineMedicine (R0)

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