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Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype

机译：用D178N-纯合129M基因型的Creutzfeldt-Jakob疾病的皮质缺血表现

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Creutzfeldt-Jakob disease (CJD) is a prion disease, usually presented with memory loss, ataxia, dementia, myoclonus, involuntary movements and psychiatric problems. D178N-homozygous 129M genotype has been recognized in the diagnosis of fatal familial insomnia (FFI) globally. Here we report a patient presented with progressive left upper limb stiffness, bradykinesia, hypomimia and weight loss (10 kg) initially. She progressed to dementia, dysphasia, dysphonia and be bedridden quickly but did not present insomnia. She was diagnosed with CJD corticobasal subtype carrying a classic D178N-129M mutation of PRNP in FFI. Remarkably, she has a strong family history of neurological degeneration diseases but the other members of this pedigree who do not carry D178N-homozygous 129M mutation in PRNP do not present any CJD or FFI symptoms. We conclude that this patient carrying D178N-homozygous 129M mutation in PRNP should be diagnosed as CJD. Thus, the clinicopathology should be considered as a crucial evidence in diagnosing some cases, but FFI could be evaluated as a differential diagnosis with a unique clinical profile.
机译：Creutzfeldt-Jakob疾病（CJD）是一种朊病毒疾病，通常呈现内存丧失，共济失调，痴呆，肌阵挛，不自主运动和精神病问题。 D178N-纯合129M基因型已被认识到全球致命性家族性失眠（FFI）的诊断。在这里，我们举报了患有逐步左上肢刚度，Bradykinesia，Hypomimia和体重减轻（10kg）的患者。她进展到痴呆症，困难，障碍症，并迅速被卧床不起，但没有出现失眠。她被诊断出患有CJD皮质缺鼠亚型，在FFI中携带PRNP的经典D178N-129M突变。值得注意的是，她有一个强烈的神经变性疾病的家族史，但这种血统的其他成员在PRNP中不携带D178N-纯合129M突变的突变不存在任何CJD或FFI症状。我们得出结论，在PRNP中携带D178N-纯合129M突变的患者应被诊断为CJD。因此，临床病理学应被视为诊断某些病例的关键证据，但可以评估为具有独特临床剖面的差异诊断。

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