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유전자로부터 동물모델에 이르는 Gilles de la Tourette 증후군 연구

Gilles de la Tourette Syndrome: From Genes to Animal Models

대한구강악안면병리학회지 2020년 44권 6호 p.153 ~ 168
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Abstract


Gilles de la Tourette Syndrome (GTS) is a neuropsychiatric disorder defined by the motor and phonic tics affecting approximately 1% of the children worldwide. The symptoms of GTS typically arise at the age of 5 to 7 and generally improve with increasing age. Affected individuals can have a social stigma and poor quality of life, especially when tics are severe or accompanied by other neuropsychiatric disorders. Abnormalities in neurotransmitter signaling affecting basal ganglia circuits have been suggested as representatives of neurobiological mechanisms underlying GTS. While several evidences suggest GTS as an inherited disorder, the detailed genetic abnormalities responsible for the pathophysiology of GTS remain poorly understood. Currently, there is no satisfactory treatment option for moderate-to-severe GTS due to the limited efficacy, often complicated with side effects of available pharmacological drugs. Therefore, a number of animal models have been established to explore potential pathophysiological targets in GTS and to further screen candidate drugs. In this review, we revisit the experimental findings that describe the genetic and immunologic abnormalities in GTS as well as animal models established for studying GTS.

키워드

Gilles de la Tourette Syndrome (GTS); Neuropsychiatric disorders; Genetic abnormalities; Animal model

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