{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:08:40Z","timestamp":1792789720057,"version":"4.5.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,9,28]]},"abstract":"<jats:p>We report a patient with sporadic Alzheimer\u2019s disease with onset in his twenties found to carry the de novo Pro436Gln mutation in the presenilin 1 gene (PS1). Clinical phenotype featured a posterior cortical syndrome with severe visual agnosia and mild limb spasticity with brisk reflexes. Brain MRI and FDG-PET scans revealed severe parieto-occipital atrophy\/hypometabolism. Cerebrospinal fluid biomarkers showed a decrease in A\u03b242 level and A\u03b242\/40 ratio, increased phospho-tau, and normal total tau. Amyloid PET identified a very high burden of amyloid-\u03b2 neuritic plaques in the posterior cortex. Similarities between this and two previously reported cases with this variant support that this mutation has a very strong impact on the clinical phenotype and is consistently associated with spasticity.<\/jats:p>","DOI":"10.3233\/jad-210420","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T12:56:17Z","timestamp":1628254577000},"page":"1011-1016","source":"Crossref","is-referenced-by-count":7,"title":["De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer\u2019s Disease Associated with Spasticity: A Case Report"],"prefix":"10.1177","volume":"83","author":[{"given":"Pablo","family":"Ag\u00fcero","sequence":"first","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Sainz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"T\u00e9llez","sequence":"additional","affiliation":[{"name":"Department of Immunology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Lorda","sequence":"additional","affiliation":[{"name":"Department of Genetics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almudena","family":"\u00c1vila","sequence":"additional","affiliation":[{"name":"Department of Genetics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Garc\u00eda-Ribas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Ram\u00f3n y Cajal, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia Paredes","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Hospital Ram\u00f3n y Cajal, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estrella","family":"G\u00f3mez-Tortosa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"key":"10.3233\/JAD-210420_ref1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1097\/GIM.0b013e31816b64dc","article-title":"Genetic aspects of Alzheimer disease","volume":"10","author":"Bird","year":"2008","journal-title":"Genet Med"},{"key":"10.3233\/JAD-210420_ref2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng1934","article-title":"Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database","volume":"39","author":"Bertram","year":"2007","journal-title":"Nat Genet"},{"key":"10.3233\/JAD-210420_ref3","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1136\/jmg.35.8.672","article-title":"De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer\u2019s disease cases. 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