Meissner B, Kallenberg K, Sanchez-Juan P, Ramljak S, Krasnianski A, Heinemann U, Eigenbrod S, Gelpi E, Barsic B, Kretzschmar H A, Schulz-Schaeffer W J, Knauth M, Zerr I
National TSE Reference Center, Dept. of Neurology, University of Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.
J Neurol. 2009 Mar;256(3):355-63. doi: 10.1007/s00415-009-0026-z. Epub 2009 Jan 23.
Iatrogenic Creutzfeldt-Jakob disease (iCJD) is mainly associated with dura mater (DM) grafts and administration of human growth hormones (hGH). Data on disease course in DM-CJD are limited. We describe the clinical and diagnostic findings in this patient group with special emphasis on MRI signal alterations.
Ten DM-CJD patients were studied for their clinical symptoms and diagnostic findings. The MRIs were evaluated for signal increase of the cortical and subcortical structures.
DM-CJD patients had a median incubation time of 18 years and median disease duration of 7 months. The majority of patients were MM homozygous at codon 129 of the prion protein gene (PRNP) and presented with gait ataxia and psychiatric symptoms. No correlation between the graft site and the initial disease course was found. The MRI showed cortical and basal ganglia signal increase each in eight out of ten patients and thalamic hyperintensity in five out of ten cases. Of interest, patients with thalamic signal increase were homozygous for methionine.
The MRI findings in DM-CJD largely resemble those seen in sporadic CJD, as the cortex and basal ganglia are mainly affected.
医源性克雅氏病(iCJD)主要与硬脑膜(DM)移植和人生长激素(hGH)的使用有关。关于DM-CJD病程的数据有限。我们描述了该患者群体的临床和诊断结果,特别强调了MRI信号改变。
对10例DM-CJD患者的临床症状和诊断结果进行了研究。对MRI进行评估,观察皮质和皮质下结构的信号增强情况。
DM-CJD患者的中位潜伏期为18年,中位病程为7个月。大多数患者在朊蛋白基因(PRNP)第129密码子处为MM纯合子,表现为步态共济失调和精神症状。未发现移植部位与初始病程之间存在相关性。MRI显示,10例患者中有8例皮质和基底节信号增强,10例中有5例丘脑高信号。有趣的是,丘脑信号增强的患者为甲硫氨酸纯合子。
DM-CJD的MRI表现与散发性CJD的表现基本相似,因为主要受累部位是皮质和基底节。