Genetics has a major role in early-onset dementia, but the correspondence between genotype and phenotype is largely tentative. We describe a 54-year-old with familial early-onset slowly-progressive episodic memory impairment with the P392L-variant in SQSTM1. The patient showed cortical atrophy and hypometabolism in the temporal lobes, but no amyloidosis biomarkers. As symptoms/neuroimaging were suggestive for Alzheimer's disease-but biomarkers were not-and considering the family-history, genetic analysis was performed, revealing the P392L-variant in SQSTM1, which encodes for sequestosome-1/p62. Increasing evidence suggests a p62 involvement in neurodegeneration and SQSTM1 mutations have been found to cause amyotrophic lateral sclerosis/frontotemporal dementia. Our report suggests that the clinical spectrum of SQSTM1 variants is wider.

Detection of the SQSTM1 Mutation in a Patient with Early-Onset Hippocampal Amnestic Syndrome / T. Carandini, L. Sacchi, L. Ghezzi, A.M. Pietroboni, C. Fenoglio, A. Arighi, G.G. Fumagalli, M.A. De Riz, M. Serpente, E. Rotondo, E. Scarpini, D. Galimberti. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1875-8908. - 79:2(2021), pp. 477-481. [10.3233/JAD-201231]

Detection of the SQSTM1 Mutation in a Patient with Early-Onset Hippocampal Amnestic Syndrome

L. Sacchi
Secondo
;
L. Ghezzi;A.M. Pietroboni;C. Fenoglio;A. Arighi;G.G. Fumagalli;M.A. De Riz;M. Serpente;E. Rotondo;E. Scarpini
Penultimo
;
D. Galimberti
Ultimo
2021

Abstract

Genetics has a major role in early-onset dementia, but the correspondence between genotype and phenotype is largely tentative. We describe a 54-year-old with familial early-onset slowly-progressive episodic memory impairment with the P392L-variant in SQSTM1. The patient showed cortical atrophy and hypometabolism in the temporal lobes, but no amyloidosis biomarkers. As symptoms/neuroimaging were suggestive for Alzheimer's disease-but biomarkers were not-and considering the family-history, genetic analysis was performed, revealing the P392L-variant in SQSTM1, which encodes for sequestosome-1/p62. Increasing evidence suggests a p62 involvement in neurodegeneration and SQSTM1 mutations have been found to cause amyotrophic lateral sclerosis/frontotemporal dementia. Our report suggests that the clinical spectrum of SQSTM1 variants is wider.
Alzheimer’s disease; early-onset dementia; next-generation sequencing; p62; SQSTM1; Age of Onset; Amnesia; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Genetic Testing; Genotype; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Sequestosome-1 Protein; Hippocampus; Mutation
Settore BIO/13 - Biologia Applicata
Settore MED/26 - Neurologia
2021
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/902049
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