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A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal calcification of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, and cognitive decline....

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Detalles Bibliográficos
Autores principales: Al Ali, Jamal, Yang, Jessica, Phillips, Matthew S., Fink, Joseph, Mastrianni, James, Seibert, Kaitlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538541/
https://www.ncbi.nlm.nih.gov/pubmed/37780723
http://dx.doi.org/10.3389/fneur.2023.1235909

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