Bresolin N, Castelli E, Comi G P, Felisari G, Bardoni A, Perani D, Grassi F, Turconi A, Mazzucchelli F, Gallotti D
Centro Dino Ferrari, Istituto di Clinica Neurologica, Università degli Studi di Milano, Italy.
Neuromuscul Disord. 1994 Jul;4(4):359-69. doi: 10.1016/0960-8966(94)90072-8.
Cognitive function and dystrophin gene mutations were investigated in 50 DMD patients (mean age 11.1 yr; range 3.5-20.3). General intelligence assessment showed 31% of patients with Wechsler full intelligence quotient (FIQ) lower than 75 (normal values: 100 +/- 14), and only 24% with appropriate FIQ level. Modal distribution of Wechsler verbal, performance, and FIQs, and Raven IQs was normal. Verbal IQ was more affected than performance IQ (PIQ) only in the younger group of subjects. Low PIQ correlated with the presence of macroglossia, detected in 13 out of 50 patients. Impairment of productive language was of non-dysphasic nature and correlated with defects of short-term memory, which was also affected in non-verbal skills. DMD patients shared the same spectrum of neuropsychological defects, regardless of whether they were or were not mentally retarded. The proportion of patients with dystrophin gene deletions was 64%. No statistically significant correlations were found between genetic data and psychometric assessment. Finally, (18F)-fluorodeoxyglucose positron emission tomography studies demonstrated cerebellar hypometabolism in all the DMD patients examined and variable involvement of associative cortical areas. These findings suggest a possible role of the cerebral and cerebellar hypometabolism in the cognitive impairment of DMD.
对50例杜氏肌营养不良症（DMD）患者（平均年龄11.1岁；范围3.5 - 20.3岁）的认知功能和肌营养不良蛋白基因突变进行了研究。一般智力评估显示，31%的患者韦氏全智商（FIQ）低于75（正常值：100±14），只有24%的患者智商水平正常。韦氏语言智商、操作智商和全智商以及瑞文智商的模态分布均正常。仅在较年轻的受试者组中，语言智商比操作智商（PIQ）受影响更大。低操作智商与巨舌症的存在相关，50例患者中有13例检测出巨舌症。语言表达能力受损为非失语性质，且与短期记忆缺陷相关，短期记忆在非语言技能中也受到影响。无论是否存在智力障碍，DMD患者都存在相同范围的神经心理缺陷。肌营养不良蛋白基因缺失患者的比例为64%。未发现基因数据与心理测量评估之间存在统计学上的显著相关性。最后，（18F）-氟脱氧葡萄糖正电子发射断层扫描研究表明，所有接受检查的DMD患者均存在小脑代谢减退，且联合皮质区域受累情况各异。这些发现提示大脑和小脑代谢减退可能在DMD的认知障碍中起作用。
