The genetics of primary dystonias and related disorders

  • Németh A
  • 66


    Mendeley users who have this article in their library.
  • 130


    Citations of this article.


Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias.

Author-supplied keywords

  • Dystonia
  • L-dopa
  • Mitochondria
  • Myoclonus
  • Parkinsonism

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Andrea H. Németh

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free