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First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ( IF 2.5 ) Pub Date : 2020-04-14 , DOI: 10.1080/21678421.2020.1752251
Alberto Raggi 1 , Anna Bartoletti-Stella 2 , Piero Parchi 2, 3 , Sabina Capellari 2, 4
Affiliation  

Recently, mutations in genes related to frontotemporal dementia and/or amyotrophic lateral sclerosis have been described as the cause of late onset psychosis. Here, we report a 68-year-old patient, carrier of a mutation in the gene encoding ubiquilin-2 (UBQLN2), who presented adult onset psychotic manifestations followed by a dysexecutive syndrome compatible with the diagnosis of behavioral variant of frontotemporal dementia. Therefore, we suggest that variants in UBQLN2 should be sought in patients with this clinical condition preceded by psychiatric disorders.



中文翻译:

首例 UBQLN2 基因突变导致成人发作的精神症状之前的额颞叶痴呆。

最近,与额颞叶痴呆和/或肌萎缩侧索硬化相关的基因突变被描述为迟发性精神病的原因。在这里,我们报告了一名 68 岁的患者,他是泛素蛋白 2 ( UBQLN2 )编码基因突变的携带者,他表现出成人发作的精神病表现,随后出现与额颞叶痴呆行为变异的诊断相符的执行障碍综合征。因此,我们建议应在患有这种临床疾病之前患有精神疾病的患者中寻找UBQLN2 的变异。

更新日期:2020-04-14
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