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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 7/2018

01-07-2018 | Movement Disorders (S Fox, Section Editor)

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

Authors: Alessio Di Fonzo, Edoardo Monfrini, Roberto Erro

Published in: Current Neurology and Neuroscience Reports | Issue 7/2018

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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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Metadata
Title
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
Authors
Alessio Di Fonzo
Edoardo Monfrini
Roberto Erro
Publication date
01-07-2018
Publisher
Springer US
Published in
Current Neurology and Neuroscience Reports / Issue 7/2018
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-018-0847-1

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