Article
Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2022
Locci Sara, Bianchi Silvia, De Stefano Nicola, Mignarri Andrea
Abstract excerpt
INTRODUCTION: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder that presents cognitive and movement impairment. To diagnose PFBC, both brain calcium accumulations visible at computed tomography (CT) and autosomal dominant or recessive inherited genetic mutation(s) in one of the known genes have to be detected. We describe the case of a female patient aging 62, who presents marked...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.