- 期刊
Juvenile Huntington's Disease: Report of One Case
幼年型亨廷頓疾病：一病例報告
摘要
亨廷頓疾病肇因於IT15基因（染色體4p 16.3）上的(CAG)重覆序列數增加。因爲精子生成過程中此重覆序列數大幅增加，故承繼父系基因者，病發早而病程加速。我們報告一幼年型亨廷頓疾病病例：不同於典型亨廷頓的舞蹈動作，病人表現我發展逆退，癲癇和僵直/緩動作性運動障礙，疾病褥期磁振造影即顯示尾核，被殼核高度萎縮及在T2-weighted和proton-density-weighted影像訊號不正常增加；經由亨廷頓(CAG)重複序列數的檢查，證實其臨床診斷，此應爲台灣第一個病例報告。
關鍵字
幼年型亨廷頓疾病並列摘要
Huntington’s disease (HD) is caused by mutation of the IT 15gene (chromosome 4p16.3), with elongation of (CAG) n repeats. Most juvenile Huntington disease patients acquire the genetic defect through paternal transmission due to amplification of the repeat number during spermato genesis, and thus causing early age of disease onset and increased disease severity. We here report one case that instead of choreoathetosis presents symptoms of developmental regression, such as seizure and rigid/bradykinesia. EEG showed occipital dominant 4-5 Hz high-amplitude spike-wave activities. MRI showed advanced atrophy and abnormal increase in signal intensity on T2-weighted and proton-density-weighted images of the caudate nuclei and putamina early in the course. The clinical diagnosis is confirmed by PCR study of HD (CAG) n repeats. This is the first case of juvenile Hunington’s disease reported in Taiwan.