Gultekin Murat, Tufekcioglu Zeynep, Baydemir Recep
Department of Neurology, M.D. Erciyes University, Kayseri, Turkey.
Department of Neurology, Istanbul Aydın University, Istanbul, Turkey.
Neurocase. 2022 Feb;28(1):107-109. doi: 10.1080/13554794.2022.2038635. Epub 2022 Feb 9.
Adult-onset neuronal ceroid lipofuscinoses (ANCLs, Kufs disease-KD) are rare, inherited, progressive, neurodegenerative, lysosomal storage diseases. Mutations in cathepsin F (CTSF) were linked to KD type B. Conversely, Frontotemporal dementia (FTD) is the second most common type of presenile dementia and Parkinsonism is a mostly common accompanying feature. Due to pronounced behavioral, cognitive, and motor features in the patients with KD type B, mutations in CTSF may resemble FTD-parkinsonism. Here, we present a case of KD type B with a novel homozygous frameshift pathogenic variant (p.Gly439Alafs*36) in the Cathepsin F (CTSF) gene presenting behavioral changes, cognitive disturbances and parkinsonism with a family history mimicking FTD-parkinsonism.
成人型神经元蜡样脂褐质沉积症（ANCLs，库夫斯病 - KD）是罕见的、遗传性、进行性神经退行性溶酶体贮积病。组织蛋白酶F（CTSF）的突变与B型KD相关。相反，额颞叶痴呆（FTD）是第二常见的早老性痴呆类型，帕金森综合征是最常见的伴随特征。由于B型KD患者存在明显的行为、认知和运动特征，CTSF突变可能类似FTD - 帕金森综合征。在此，我们报告一例B型KD患者，其组织蛋白酶F（CTSF）基因存在一种新的纯合移码致病性变异（p.Gly439Alafs*36），表现出行为改变、认知障碍和帕金森综合征，且家族史类似FTD - 帕金森综合征。
