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

Alessio Di Fonzo, Edoardo Monfrini, Roberto Erro

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number37
JournalCurrent Neurology and Neuroscience Reports
Issue number7
Publication statusPublished - Jul 1 2018


  • Chorea
  • Dystonia
  • Genetics
  • Movement disorders
  • Next-generation sequencing
  • Parkinson’s disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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