Article
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
Neurogenetics - 1 Jul 2023
Hebestreit Sophie, Schwahn Janine, Sandikci Vesile, Maros Mate E, Valkadinov Ivan, Yilmaz Rüstem, Eckrich Lukas, Loghmani Seyed Babak, Lesch Hendrik, Conrad Julian, Wenz Holger, Ebert Anne, Brenner David, Weishaupt Jochen H
Abstract excerpt
Primary familial brain calcification (PFBC; formerly Fahr's disease) and early-onset Alzheimer's disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous loss-of-function mutation c.1523 + 1G > T in the PFBC-linked gene SLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF β-amyloid parameters and FBB-PET suggested...
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