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Semin Neurol 2023; 43(01): 147-155
DOI: 10.1055/s-0043-1763507
Review Article

Genetic Testing in Clinical Movement Disorders: A Case-Based Review

Lorraine V. Kalia
1   Division of Neurology, Department of Medicine, Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic and Krembil Research Institute, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada
,
Graeme A. M. Nimmo
2   Fred A. Litwin Family Centre for Genetic Medicine, Department of Medicine, Mount Sinai Hospital and Toronto General Hospital, University Health Network, University of Toronto, Toronto, Canada
,
Tiago A. Mestre
3   Division of Neurology, Department of Medicine, Ottawa Hospital Research Institute, University of Ottawa Brain and Mind Research Institute, The Ottawa Hospital, Ottawa, Ontario, Canada
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Abstract

Genetics are fundamental to understanding the pathophysiology of neurological disease, including movement disorders. Genetic testing in clinical practice has changed dramatically over the last few decades. While the likelihood of establishing an etiological diagnosis is greater now with increased access to testing and more advanced technologies, clinicians face challenges when deciding whether to test, then selecting the appropriate test, and ultimately interpreting and sharing the results with patients and families. In this review, we use a case-based approach to cover core aspects of genetic testing for the neurologist, namely, genetic testing in Parkinson's disease, interpretation of inconclusive genetic test reports, and genetic testing for repeat expansion disorders using Huntington disease as a prototype.

Keywords

genetics - Huntington - movement disorders - Parkinson - repeat expansion - variable of unknown significance


Publication History

Article published online:
28 February 2023

© 2023. Thieme. All rights reserved.

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