PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319679/
https://www.ncbi.nlm.nih.gov/pubmed/37341843
http://dx.doi.org/10.1007/s10048-023-00723-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319679/
https://www.ncbi.nlm.nih.gov/pubmed/37341843
http://dx.doi.org/10.1007/s10048-023-00723-x

Ejemplares similares