title: [Dystonia genes and elucidation of their roles in dystonia pathogenesis].
abstract: Identification of causative genes for hereditary dystonia and elucidation of their functions are crucial for better understanding of dystonia pathogenesis. As seen in other hereditary neurologic disorders, intra- and inter-familial clinical variations have been demonstrated in hereditary dystonia. Asymptomatic carriers can be found due to alterations in penetrance, generally reduced in succeeding generations. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients.
authors.affiliation: Department of Clinical Neuroscience Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima.
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miyamoto
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Murakami
authors.forename: Yoshimichi
authors.initials: Y
authors.lastname: Miyazaki
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Koizumi
authors.forename: Wataru
authors.initials: W
authors.lastname: Sako
authors.forename: Youhei
authors.initials: Y
authors.lastname: Mukai
authors.forename: Kenta
authors.initials: K
authors.lastname: Sato
authors.forename: Shinichi
authors.initials: S
authors.lastname: Matsumoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Sakamoto
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D046690:Deep Brain Stimulation; D004421:Dystonia / Q000235:genetics* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D009154:Mutation