Tan Tracie Huey-Lin, Stark Richard J, Waterston John A, White Owen, Thyagarajan Dominic, Monif Mastura
Neurology, Alfred Health, Melbourne, Victoria, Australia.
Neuroscience, Monash University Faculty of Medicine Nursing and Health Sciences, Clayton, Victoria, Australia.
BMJ Neurol Open. 2020 Sep 18;2(2):e000074. doi: 10.1136/bmjno-2020-000074. eCollection 2020.
Human prion diseases are a group of rare neurological diseases with a minority due to genetic mutations in the prion protein (PRNP) gene. The D178N mutation is associated with both Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotype modified by a polymorphism at codon 129 with the methionine/valine (MV) polymorphism associated with atypical presentations leading to diagnostic difficulty.
We present a case of fatal familial insomnia secondary to a PRNP D178N mutation with 129MV disease modifying polymorphism who had no family history, normal MRI, electroencephalography (EEG), cerebrospinal fluid (CSF) and positron emission tomography findings and a negative real-time quaking-induced conversion result.
Patients with genetic prion disease may have no known family history and normal EEG, MRI brain and CSF findings. PRNP gene testing should be considered for patients with subacute progressive neurological and autonomic dysfunction.
人类朊病毒病是一组罕见的神经疾病，少数由朊病毒蛋白（PRNP）基因突变引起。D178N突变与克雅氏病和致死性家族性失眠症有关，其表型因密码子129处的多态性而改变，甲硫氨酸/缬氨酸（MV）多态性与非典型表现相关，导致诊断困难。
我们报告一例继发于PRNP D178N突变且伴有129MV疾病修饰多态性的致死性家族性失眠症患者，该患者无家族病史，头颅磁共振成像（MRI）、脑电图（EEG）、脑脊液（CSF）及正电子发射断层扫描结果均正常，实时震颤诱导转化检测结果为阴性。
遗传性朊病毒病患者可能无家族病史，EEG、头颅MRI及CSF检查结果正常。对于亚急性进行性神经和自主神经功能障碍患者，应考虑进行PRNP基因检测。
