Rinsho Shinkeigaku (Clinical Neurology)


Dystonia genes and elucidation of their roles in dystonia pathogenesis

Toshitaka Kawarai, M.D.1), Ryosuke Miyamoto, M.D.1), Nagahisa Murakami, M.D.1), Yoshimichi Miyazaki, M.D.1), Hidetaka Koizumi, M.D.1), Wataru Sako, M.D.1), Youhei Mukai, M.D.2), Kenta Sato, M.D.1), Shinichi Matsumoto, M.D.3), Takashi Sakamoto, M.D.2), Yuishin Izumi, M.D.1) and Ryuji Kaji, M.D.1)

1)Department of Clinical Neuroscience Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima
2)Department of Neurology, National Institute of Neuroscience, National Center of Neurology and Psychiatry
3)Department of Neurology, Shinko Hospital

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.
Full Text of this Article in Japanese PDF (1224K)

(CLINICA NEUROL, 53: 419|429, 2013)
key words: dystonia genes, asymptomatic carrier, reduced penetrance, effects of DBS

(Received: 20-Jan-13)