Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias
作者： Catharina Casper , Eirini Kalliolia , Thomas T. Warner
DOI: 10.2174/157015913804999432
关键词:
摘要: The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, focal which is likely to be multifactorial origin. In recent years there has renewed interest non-primary including dystonia-plus syndromes heredodegenerative disorders. These are caused by a variety genetic mutations their study contributed our understanding neuronal dysfunction that leads findings reinforced themes identified from abnormal dopaminergic signalling, cellular trafficking mitochondrial function. this review we highlight advances dystonias.
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