Abstract
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.
Highlights
Dystonia is a disorder of movement caused byinvoluntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures' (Fahn et al, 1987, 1998)
The genetic contribution to the development of dystonia has been recognized for many years, but it is only recently that some of the chromosomal loci and genes involved in dystonia have been identi®ed, so that the molecular mechanisms involved can begin to be elucidated
Occasional patients affected with late-onset, purely focal dystonia seek genetic counselling, concerned that a child might be severely handicapped, as might occur with the DYT1 mutation
Summary
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, thedystonia-plus' syndromes and heredodegenerative disorders. The review focuses 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
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