TauRx Therapeutics Ltd., Aberdeen, UK.
Aberdeen Royal Infirmary, NHS Grampian, Aberdeen, UK.
J Alzheimers Dis. 2021;83(3):1017-1023. doi: 10.3233/JAD-210390.
One of the mutations in the microtubule-associated protein tau, P301S, is causative for dominantly inherited frontotemporal dementia characterized by extensive tau pathology for which no licensed treatment is available. Hydromethylthionine is a potent tau aggregation inhibitor. We report treatment of an asymptomatic carrier of the P301S mutation using hydromethylthionine over a 5-year period beginning at the mean age of onset of clinical decline in the family. During the period of treatment, the rates of progression of cerebral atrophy were reduced by 61%-66% in frontal and temporal lobes, and the patient remained clinically asymptomatic.
微管相关蛋白 tau 的突变之一，P301S，是导致额颞叶痴呆的显性遗传原因，其特征是广泛的 tau 病理学，目前尚无许可的治疗方法。羟甲基硫氨酸是一种有效的 tau 聚集抑制剂。我们报告了一例 P301S 突变的无症状携带者，在家族中临床衰退的平均发病年龄开始时，使用羟甲基硫氨酸进行了 5 年的治疗。在治疗期间，额叶和颞叶的脑萎缩进展速度分别降低了 61%-66%，并且患者保持临床无症状。
