[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Dystonias are clinically and genetically heterogeneous neurological disorders that affect movement, and are the focus of much investigative work. The recent identification of mutations in the gene THAP1 in DYT6 dystonia reopens the very interesting question of the in fine involvement of dopamine in the different types of dystonia. In this review, we will go through the recent literature in order to evaluate the many contributions to this theory as well as to highlight the difficulties in identifying a global regulatory pathway for the different forms of this disease that we are just starting to decipher.
Blanchard
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A
Inserm, U827, institut universitaire de recherche clinique, 641, avenue du Doyen-Gaston-Giraud, 34093 Montpellier cedex 05, France; UFR médecine, université de Montpellier-1, 34000 Montpellier, France.
Roubertie
A
A
Frédéric
M Y
MY
Claustres
M
M
Collod-Béroud
G
G
D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004298:Dopamine / Q000502:physiology*; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology; D018740:Genetic Heterogeneity; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics; D009154:Mutation / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics
D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D018832:Molecular Chaperones; D009687:Nuclear Proteins; C474080:THAP1 protein, human; C108175:TOR1A protein, human; D004298:Dopamine