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 / Carandini, T.; Sacchi, L.; Ghezzi, L.; Pietroboni, A. M.; Fenoglio, C.; Arighi, A.; Fumagalli, G. G.; De Riz, M. A.; Serpente, M.; Rotondo, E.; Scarpini, E.; Galimberti, D.. - 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
Fumagalli G. G.;
2021-01-01
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.File | Dimensione | Formato | |
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2021 Carandini et al, JAD SQSTM1.pdf
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