Dystonia: an update on genetics and treatment.
Recent years have seen many advances in our understanding of the genetics of the dystonias, with 13 loci identified to date. The DYT1 gene, which causes most cases of childhood-onset generalized primary dystonia, was cloned in 1997, and use of cell models has begun to unravel the role of its protein (torsinA) in both health and disease. Treatment of more severe dystonia has been a difficult area, with only limited success from medical therapies. Recently, there has been increasing interest in the use of globus pallidus deep brain stimulation and a number of reports have shown promising results.
Misbahuddin
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Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.
Warner
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D000328:Adult; D019274:Botulinum Toxins, Type A / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D003131:Combined Modality Therapy; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D018832:Molecular Chaperones; D010641:Phenotype
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human; D007980:Levodopa; D019274:Botulinum Toxins, Type A