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Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Llamas-Velasco, Sara; Arteche-López, Ana; Méndez-Guerrero, Antonio; Puertas Martín, Verónica; Quesada Espinosa, Juan Francisco; Lezana Rosales, Jose Miguel; González-Sánchez, Marta; Blanco-Palmero, Victor Antonio; Palma Milla, Carmen; Herrero-San Martín, Alejandro; Borrego-Hernández, Daniel; García-Redondo, Alberto; Pérez-Martínez, David Andrés; Villarejo-Galende, Alberto.
Afiliación
  • Llamas-Velasco S; Neurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Arteche-López A; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED).
  • Méndez-Guerrero A; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i + 12).
  • Puertas Martín V; Genetic Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Quesada Espinosa JF; Neurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Lezana Rosales JM; Neurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • González-Sánchez M; Universidad Internacional de la Rioja, Logroño, Spain.
  • Blanco-Palmero VA; Genetic Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Palma Milla C; Genetic Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Herrero-San Martín A; Neurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Borrego-Hernández D; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED).
  • García-Redondo A; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i + 12).
  • Pérez-Martínez DA; Neurology Service, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Villarejo-Galende A; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED).
Amyotroph Lateral Scler Frontotemporal Degener ; 22(7-8): 552-560, 2021 11.
Article en En | MEDLINE | ID: mdl-34009082
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Lobar Frontotemporal / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Aged / Humans / Male Idioma: En Revista: Amyotroph Lateral Scler Frontotemporal Degener Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Lobar Frontotemporal / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Aged / Humans / Male Idioma: En Revista: Amyotroph Lateral Scler Frontotemporal Degener Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido