DOI:10.16636/j.cnki.jinn.2015.04.008 2 015 4 2 4 510260 DRPLA 3 1 DRPLA DRPLA CAG 3 13 1 22 DRPLA CAG 15 /64 17 /65 15 /68 12 /62 DRPLA CAG DRPLA Clinical characteristics of juvenile-type and adult-type dentatorubral-pallidoluysian atrophy a comparative analysis ZHU Wei-Wen SONG Xing-Wang LIU Xiao-Rong LIAO Wei-Ping YI Yong-Hong. Department of Neurology The Second Affiliated Hospital of Guangzhou Medical University Guangzhou 510260 China Abstract Objective To investigate the differences and similarities in the clinical characteristics of juvenile-type and adult-type dentatorubral-pallidoluysian atrophy DRPLA. Methods The clinical data of 3 patients with juvenile DRPLA and 1 patient with adult DRP- LA were collected and their clinical manifestations imaging characteristics electroencephalogram EEG results and DRPLA gene CAG repeat numbers were analyzed comparatively. Results The mean age of onset of the 3 patients with juvenile DRPLA was 13 years and these patients all had a history of myoclonus and epilepsy and the symptoms of mental retardation marked cerebellar ataxia involuntary movement and psychosis. The age of onset of the patient with adult DRPLA was 22 years and the patient had a history of myoclonus and epilepsy and the symptoms of memory deterioration mild cerebellar ataxia and tremors in both hands but without psychosis. Magnetic resonance imaging showed marked atrophies in the brainstem the cerebellum and the cerebral cortex and symmetric white matter degeneration in patients with juvenile DRPLA and only mild atrophies in the brainstem and the cerebellum was observed for adult DRP- LA. EEG background for juvenile and adult DRPLA was slow wave rhythm and normal rhythm respectively. DRPLA gene detection showed that the numbers of CAG repeats in 3 cases of juvenile DRPLA were 15 /64 17 /65 and 15 /68 respectively and that the number of CAG repeats in the case of adult DRPLA was 17 /62. Conclusions DPRLA has obvious clinical heterogeneity and the number of CAG repeats is associated with the age of onset and clinical manifestations. Specific gene detection can be performed for juvenile patients with myoclonus epilepsy ataxia and mental retardation to raise the detection rate of juvenile DRPLA and avoid missed diagnosis. Key words dentatorubral-pallidoluysian atrophy juvenile type adult type clinical characteristics dentatorubral -pallidoluysian atrophy DRPLA DRPLA spinocerebellar ataxias SCA 2015-07 - 17 2015-08 - 31 1971 - E-mail zhuweiwen11@ 126. com 333
Journal of International Neurology and Neurosurgery 2015 42 4 4 DRPLA 15 DRPLA 2 ~ 5 / 2 100-1 7 = 1. 1 2014 2015 60 40 1. 2 3 ml 6 13 17 18 SCA1 / 2 / 3 / 6 / 7 / 12 / DRPLA 2 SCA 3 17 9 CAG CAG 9 TP -PCR 14 DRPLA Shoji Tsuji 2010 GeneReviews DRPLA CAG MRI + T 2 Flair 40 24 Video -EEG 2 2. 1 2. 1. 1 1 29 16 1 22 25 Romberg 2 ~ 3 / 10 + s sign + / d 58 MMSE 9 1 ~ 2 / 3 4 31 22 4 2014 3 DR- PLA 1 DRPLA 2. 1. 2 Romberg s sign + 1 2 3 MRI 50 T 2 Flair 55 DRP- LA 1 4 MRI 2 23 14 5 334
国际神经病学神经外科学杂志 图1 图3 图5 2015 年 第 42 卷 第4 期 病例 1 家族图谱 图2 病例 2 家族图谱 图4 病例 4 家族图谱 病例 3 家族图谱 患 者 头 颅 MＲI 影 像 A 病 例 1 T2 像 矢 状 位 桥 前 池 环 池 及 小 脑 延 髓 池 明 显 增 宽 扩 大 B 病 例 1 T2 Flair 像 基 底 节 萎 缩 侧 脑 室 前 后 角 周 围 脑 白 质 对 称 的 淡 薄 斑 片 状 高 信 号 C 病 例 1 T2 像 轴 位 脑 干 小 脑 齿 状 核 明 显 萎 缩 D 病 例 1 T2 Flair 像 冠 状 位 脑 沟 脑 裂 明 显 增 宽 变 深 脑 室 扩 大 皮 层 下 白 质 斑 片 状 信 号 增 高 E 病 例 1 胸 片 双 侧 锁 骨 平 宽 脊 柱 侧 弯 F 病 例 4 T2 像 矢 状 位 桥 前 池 环 池 及 小 脑 延 髓 池 轻 度 增 宽 扩 大 H 病 例 4 T2 Flair 像 基 底 节 未 见 明 显 异 常 G 病 例 4 T2 像 轴 位 脑 干 轻 度 萎 缩 I 病 例 4 T2 Flair 像 冠 状 位 脑 沟 脑 裂 略 增 宽 变 深 335
Journal of International Neurology and Neurosurgery 2015 42 4 1 ~ 4 Hz 6 ~ 7 Hz θ 2. 2-2 2 17 / 65 3 15 / 68 4 2 ~ 2. 5 Hz δ 12 / 62 4 SCA1 2 3 3 3 6 7 12 CAG ~ 4. 5 Hz δ 6 4 3 DRPLA CAG 1 15 / 64 6 DRPLA A 1 DRPLA CAG 15 / 64 B 2 DRPLA CAG 17 / 65 C 3 DRPLA CAG 15 / 68 D 4 DRPLA CAG 12 / 62 3 DRPLA 12 p13. 31 20 atrophin -1 DRPLA 20 5 CAG n 40 CAG n - atrophin -1 atrophin -1 20 2 DRPLA 10 336
2 015 4 2 4 3 3 2 1 40 20 lafora MERRF 20 MRI MRI DRPLA MRI DRPLA 3 CAG 1 Maruyama S Saito Y Nakagawa E et al. Importance of CAG repeat length in childhood -onset dentatorubral -pallidoluysian atrophy. J Neurol 2 0 1 2 2 5 9 1 1 2 3 2 9 - MRI CAG n 2 3 3 4. 2 Yamada M. Dentatorubral -pallidoluysian atrophy DRPLA. CAG 6 ~ 35 20 Neuropathology 2 0 1 0 3 0 5 4 5 3-4 5 7. DRPLA 49 3 Tsuji S. Dentatorubral -pallidoluysian atrophy. Handb Clin Neurol 2012 103 587-594. 64 3 CAG 64 4 Hasegawa A Ikeuchi T Koide R et al. Long -term disability and prognosis in dentatorubral -pallidoluysian atrophy a correlation with CAG repeat Length. Mov Disord 2 0 1 0 2 5 CAG n 1 1 1 6 9 4-1 7 0 0. CAG n 5.. 1 4 2 0 1 3 3 0 1 3 1-3 5. DRPLA 6. 4 5 6 1 2 8 3 DRPLA DRPLA CAG n 7. 2 0 1 3 4 6 1 0 6 9 2-708 SCA 119 6 9 6. SCA 5 7. 67 SCA 66 SCA. 2 0 0 6 5 9 9 1 5-9 1 7. DRPLA 8 Yam WK Wu NS Lo IF et al. Dentatorubral -pallidoluysian atrophy in two Chinese families in Hong Kong. Hong Kong Med J 2 0 0 4 1 0 1 5 3-5 6. 337