Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia

被引:0
作者
Llamas-Velasco, Sara [1 ,2 ,3 ]
Arteche-Lopez, Ana [4 ]
Mendez-Guerrero, Antonio [1 ]
Puertas Martin, Veronica [1 ,5 ]
Quesada Espinosa, Juan Francisco [4 ]
Lezana Rosales, Jose Miguel [4 ]
Gonzalez-Sanchez, Marta [1 ,2 ,3 ]
Blanco-Palmero, Victor Antonio [1 ,2 ,3 ]
Palma Milla, Carmen [4 ]
Herrero-San Martin, Alejandro [1 ,2 ,3 ]
Borrego-Hernandez, Daniel [3 ,6 ]
Garcia-Redondo, Alberto [3 ,6 ]
Perez-Martinez, David Andres [1 ,2 ,3 ,7 ]
Villarejo-Galende, Alberto [1 ,2 ,3 ,7 ]
机构
[1] Hosp Univ 12 Octubre, Neurol Serv, Madrid, Spain
[2] Hosp Univ 12 Octubre, Network Ctr Biomed Res Neurodegenerat Dis CIBERNE, Madrid, Spain
[3] Hosp Univ 12 Octubre, Inst Invest Hosp 12 Octubre I 12, Grp Neurodegenerat Dis, Madrid, Spain
[4] Hosp Univ 12 Octubre, Genet Serv, Madrid, Spain
[5] Univ Int Rioja, Logrono, Spain
[6] Univ Complutense, Biomed Res Networking Ctr Rare Dis CIBERER, Madrid, Spain
[7] Univ Complutense, Dept Med, Madrid, Spain
关键词
SQSTM1; frontotemporal dementia; personality disorder; PAGET-DISEASE; SQSTM1/P62; MUTATIONS; AUTOPHAGY; RECOMMENDATION; ASSOCIATION; PREVALENCE; GUIDELINES; STANDARDS; MYOPATHY;
D O I
10.1080/21678421.2021.1927101
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p. (Pro146_Cys154dup) in the SQSTM1 gene in a family with a new phenotype characterized by a personality disorder and behavioral variant frontotemporal dementia (bvFTD). We review the literature on frontotemporal dementia (FTD) associated with SQSTM1. Methods: The index case and relatives were described, and a genetic study through Whole Exome Sequencing was performed. The literature was reviewed using Medline and Web of Science. Case reports, case series, and cohort studies were included if they provided information on SQSTM1 mutations associated with FTD. Results: Our patient is a 70-year-old man with a personality disorder since youth, familial history of dementia, and personality disorders with a 10-year history of cognitive decline and behavioral disturbances. A diagnosis of probable bvFTD was established, and the in-frame duplication c.436_462dup in the SQSTM1 gene was identified. Segregation analysis in the family confirmed that both affected sons with personality disorder were heterozygous carriers, but not his healthy 65-year-old brother. A total of 14 publications about 57 patients with SQSTM1-related FTD were reviewed, in which the bvFTD subtype was the main phenotype described (66.6%), with a predominance in men (63%) and positive family history in 61.4% of the cases. Conclusions: We describe a heterozygous in-frame duplication c.436_462dup p.(Pro146_Cys154dup) in the SQSTM1 gene, which affects the zinc-finger domain of p62, in a family with a personality disorder and bvFTD, expanding the genetics and clinical phenotype related to SQSTM1.
引用
收藏
页码:552 / 560
页数:9
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