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Rare Causes of Dystonia Parkinsonism

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Abstract

The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson’s disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. They have in common that in all these syndromes there may be a combination of dystonic and parkinsonian features, which may be complicated by pyramidal tract involvement. The aim of this review is to familiarize the clinician with the phenotypes of these disorders.

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Acknowledgments

Susanne A. Schneider was supported by a research grant from the University of Lübeck (E48.2009), a grant from the Deutsche Forschungsgemeinschaft (LO1555/3-1), the Novartis Foundation for Therapeutic Research, and the Empiris Foundation for Research in Brain Diseases, CH.

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  1. Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK

    Susanne A. Schneider & Kailash P. Bhatia

  2. Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University Luebeck, Ratzeburger Allee 160, 23538, Luebeck, Germany

    Susanne A. Schneider

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Correspondence to Kailash P. Bhatia.

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Schneider, S.A., Bhatia, K.P. Rare Causes of Dystonia Parkinsonism. Curr Neurol Neurosci Rep 10, 431–439 (2010). https://doi.org/10.1007/s11910-010-0136-0

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