Kawarai Toshitaka, Miyamoto Ryosuke, Murakami Nagahisa, Miyazaki Yoshimichi, Koizumi Hidetaka, Sako Wataru, Mukai Youhei, Sato Kenta, Matsumoto Shinichi, Sakamoto Takashi, Izumi Yuishin, Kaji Ryuji
Department of Clinical Neuroscience Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima.
Rinsho Shinkeigaku. 2013;53(6):419-29. doi: 10.5692/clinicalneurol.53.419.
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.
确定遗传性肌张力障碍的致病基因并阐明其功能，对于更好地理解肌张力障碍的发病机制至关重要。正如在其他遗传性神经疾病中所见，遗传性肌张力障碍存在家族内和家族间的临床变异。由于外显率的改变，可能会发现无症状携带者，其外显率通常在后代中降低。目前已知的肌张力障碍基因包括与多巴胺代谢、转录因子、细胞骨架、葡萄糖和钠离子转运等相关的基因。据报道，深部脑刺激的效果可能因基因型而异。基因型与结果相关性的积累将有助于肌张力障碍患者的治疗决策。
