Rubino Elisa, Vacca Alessandro, Gallone Salvatore, Govone Flora, Zucca Milena, Gai Annalisa, Ferrero Patrizia, Fenoglio Pierpaola, Giordana Maria Teresa, Rainero Innocenzo
a Aging Brain and Memory Clinic, Department of Neuroscience "Rita Levi Montalcini" , University of Turin , Turin , Italy and.
b Neurology I, Department of Neuroscience and Mental Health , AOU Città della Salute e della Scienza , Turin , Italy.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):624-626. doi: 10.1080/21678421.2017.1339716. Epub 2017 Jun 30.
Bipolar disorder is a chronic psychiatric illness characterised by fluctuation in mood state, with a relapsing and remitting course. Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous syndrome, with the most frequent phenotype being behavioural variant frontotemporal dementia (bvFTD). Here, we report the case of an Italian male presenting with late-onset bipolar disorder that developed into bvFTD over time, carrying a mutation in the GRN gene. Interestingly, the patient carried the c.1639 C > T variant in the GRN gene, resulting in a R547C substitution. Our case report further corroborates the notion that, in addition to FTD, progranulin may be involved in the neurobiology of bipolar disorder type 1, and suggests to screen patients with late-onset bipolar disorder for GRN mutations.
双相情感障碍是一种慢性精神疾病，其特征为情绪状态波动，呈复发和缓解病程。额颞叶痴呆（FTD）是一种临床和遗传异质性综合征，最常见的表型是行为变异型额颞叶痴呆（bvFTD）。在此，我们报告一例意大利男性病例，该患者最初表现为晚发性双相情感障碍，随时间发展为bvFTD，其GRN基因存在突变。有趣的是，该患者GRN基因存在c.1639 C＞T变异，导致R547C替代。我们的病例报告进一步证实了以下观点，即除FTD外，前颗粒蛋白可能参与1型双相情感障碍的神经生物学过程，并建议对晚发性双相情感障碍患者进行GRN基因突变筛查。
