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Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.
Tábuas-Pereira, Miguel; Guerreiro, Rita; Kun-Rodrigues, Célia; Almeida, Maria Rosário; Brás, José; Santana, Isabel.
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  • Tábuas-Pereira M; Neurology Department, Centro Hospitalar E Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-045, Coimbra, Portugal. miguelatcp@gmail.com.
  • Guerreiro R; Faculty of Medicine, University of Coimbra, Coimbra, Portugal. miguelatcp@gmail.com.
  • Kun-Rodrigues C; Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal. miguelatcp@gmail.com.
  • Almeida MR; Centro Académico Clínico de Coimbra, University of Coimbra, Coimbra, Portugal. miguelatcp@gmail.com.
  • Brás J; Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.
  • Santana I; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
Neurogenetics ; 23(4): 279-283, 2022 10.
Article en En | MEDLINE | ID: mdl-36114914
Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson's and Alzheimer's diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mutations. A man developed dementia with Lewy bodies starting at the age of 60 years. CSF biomarkers were of Alzheimer's disease and DaTSCAN was abnormal. Whole-exome sequencing revealed a heterozygous p.Ile408Thr PSEN1 variant and a homozygous p.Arg616Trp ATP7B variant. This case reinstates the need of considering ATP7B mutations when evaluating a patient with parkinsonism and supports p.Ile408Thr as a pathogenic PSEN1 variant.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Enfermedad por Cuerpos de Lewy / Enfermedad de Alzheimer Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Enfermedad por Cuerpos de Lewy / Enfermedad de Alzheimer Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Estados Unidos