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Schwiete Stiftung","doi-asserted-by":"publisher","award":["2021-042"],"award-info":[{"award-number":["2021-042"]}],"id":[{"id":"10.13039\/501100020027","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001661","name":"Ruprecht-Karls-Universit\u00e4t Heidelberg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001661","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract\n<\/jats:title><jats:p>Primary familial brain calcification (PFBC; formerly Fahr\u2019s disease) and early-onset Alzheimer\u2019s disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous <jats:italic>loss-of-function<\/jats:italic> mutation c.1523\u2009+\u20091G\u2009&gt;\u2009T in the PFBC-linked gene <jats:italic>SLC20A2<\/jats:italic> was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF \u03b2-amyloid parameters and FBB-PET suggested cortical \u03b2-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c.235G\u2009&gt;\u2009A\/p.A79T in <jats:italic>PSEN1<\/jats:italic>. The <jats:italic>SLC20A2<\/jats:italic> mutation segregated with mild calcifications in two children younger than 30\u00a0years. We thus describe the stochastically extremely unlikely co-morbidity of genetic PFBC and genetic EOAD. The clinical syndromes pointed to additive rather than synergistic effects of the two mutations. MRI data revealed the formation of PFBC calcifications decades before the probable onset of the disease. Our report furthermore exemplifies the value of neuropsychology and amyloid PET for differential diagnosis.<\/jats:p>","DOI":"10.1007\/s10048-023-00723-x","type":"journal-article","created":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T13:01:53Z","timestamp":1687352513000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["PSEN1\/SLC20A2 double mutation causes early-onset Alzheimer\u2019s disease and primary familial brain calcification co-morbidity"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2075-4374","authenticated-orcid":false,"given":"Sophie","family":"Hebestreit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Schwahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vesile","family":"Sandikci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mate E.","family":"Maros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Valkadinov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00fcstem","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukas","family":"Eckrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Babak","family":"Loghmani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik","family":"Lesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Wenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Ebert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Brenner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen H.","family":"Weishaupt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,6,21]]},"reference":[{"key":"723_CR1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-014-0490-4","author":"A Westenberger","year":"2014","unstructured":"Westenberger A, Klein C (2014) The genetics of primary familial brain calcifications. 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