Title:Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias
Volume: 11
Issue: 1
Author(s): Catharina Casper, Eirini Kalliolia and Thomas T. Warner
Affiliation:
Keywords:
Dystonia- plus syndrome, Secondary dystonia, Molecular pathogenesis, Neurodegeneration, Mitochondria
Abstract: 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,
and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest in
non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders. These are caused
by a variety of genetic mutations and their study has contributed to our understanding of the neuronal dysfunction that
leads to dystonia These findings have reinforced themes identified from study of primary dystonia including abnormal
dopaminergic signalling, cellular trafficking and mitochondrial function. In this review we highlight recent advances in
the understanding of the dystonia-plus syndromes and heredodegenerative dystonias.
