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Genetics of Atypical Parkinsonism

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Movement Disorder Genetics

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Abstract

In this chapter, we discuss the genetics of sporadic atypical parkinsonism, namely, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA). Major new knowledge include new susceptibility loci apart from the H1 haplotype in microtubuli-associated protein tau (MAPT) gene for PSP, as well as the discovery of mutations in COQ2 gene causing familial MSA. Furthermore, we discuss atypical features of new and known PARK-related genes, such as DNAJC6 and SYNJ1. Lastly, we discuss the features of atypical parkinsonism in genetic conditions presenting predominantly with other phenotypes such as dementia (MAPT, PGRN, C9ORF72, DCTN1), ataxia (SCAs, FXTAS), dystonia (DRD, DYT12, dopamine transporter deficiency syndrome), and others such as mitochondrial and metabolic disorders.

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Authors and Affiliations

  1. Department of Neurology, Philipps-University Marburg, Marburg, Germany

    Maria Stamelou MD, PhD

  2. Second Department of Neurology, National and Kapodistrian University of Athens, Attiko Hospital, Athens, 12462, Greece

    Maria Stamelou MD, PhD

  3. Sobell Department, University College London/Institute of Neurology, London, WC1N 3BG, UK

    Kailash P. Bhatia MD, DM, FRCP

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Correspondence to Maria Stamelou MD, PhD .

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  1. Department of Neurology, University Hospital Kiel, Kiel, Germany

    Susanne A. Schneider

  2. Department of Molecular Neuroscience, University College London, Institute of Neurology, London, United Kingdom

    José M. Tomás Brás

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Stamelou, M., Bhatia, K.P. (2015). Genetics of Atypical Parkinsonism. In: Schneider, S., Brás, J. (eds) Movement Disorder Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-17223-1_3

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