Jot Sipilä
Department of Neurology, Siun Sote North Karelia Central Hospital, 80120 Joensuu, Finland.
Division of Clinical Neurosciences, Turku University Hospital, 20521 Turku, Finland.
Brain Sci. 2019 Sep 22;9(10):245. doi: 10.3390/brainsci9100245.
Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and a clinical phenotype mostly consistent with PD, but early dystonia and poor levodopa response. Neurophysiological test results were more consistent with Huntington's disease (HD) than PD. It is suggested that the intermediate allele modulated the clinical phenotype of PD in this patient.
亨廷顿舞蹈症由HTT基因等位基因中至少36个胞嘧啶 - 腺嘌呤 - 鸟嘌呤（CAG）重复序列引起，但中间范围（27 - 35个重复序列）的重复片段也表现出轻微的表型。该患者有一个略长的CAG重复片段（29个重复序列），有显著的帕金森病（PD）家族史，临床表型大多与PD相符，但有早期肌张力障碍且对左旋多巴反应不佳。神经生理学测试结果与亨廷顿舞蹈症（HD）比与PD更相符。提示中间等位基因调节了该患者的PD临床表型。
