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Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

  • Movement Disorders (S Fox, Section Editor)
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Abstract

Purpose of Review

This review aims to provide the basic knowledge on the genetics of hypokinetic and hyperkinetic movement disorders to guide clinicians in the decision of “who and what to test for?”

Recent Findings

In recent years, the identification of various genetic causes of hypokinetic and hyperkinetic movement disorders has had a great impact on a better definition of different clinical syndromes. Indeed, the advent of next-generation sequencing (NGS) techniques has provided an impressive step forward in the easy identification of genetic forms. However, this increased availability of genetic testing has challenges, including the ethical issue of genetic testing in unaffected family members, “commercially” available home testing kits and the increasing number and relevance of “variants of unknown significance.”

Summary

The emergent role of genetic factors has important implications on clinical practice and counseling. As a consequence, it is fundamental that practicing neurologists have a proper knowledge of the genetic background of the diseases and perform an accurate selection of who has to be tested and for which gene mutations.

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Acknowledgements

We thank Susan Ainscough for having edited the manuscript.

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Authors and Affiliations

  1. IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

    Alessio Di Fonzo & Edoardo Monfrini

  2. Neurodegenerative disease center (CEMAND), Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, Baronissi, SA, Italy

    Roberto Erro

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  1. Alessio Di Fonzo
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Correspondence to Roberto Erro.

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Alessio Di Fonzo, Edoardo Monfrini, and Roberto Erro each declare no potential conflicts of interest.

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This article is part of the Topical Collection on Movement Disorders

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Di Fonzo, A., Monfrini, E. & Erro, R. Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?. Curr Neurol Neurosci Rep 18, 37 (2018). https://doi.org/10.1007/s11910-018-0847-1

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