Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report.

ABSTRACT: Primary familial brain calcification (PFBC) is known as Fahr's disease (FD) or familial idiopathic basal ganglia calcification (FIBGC). PFBC is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition. Currently, pathogenic variants in six genes (SLC20A2, PDGFB, PDGFRB, XPR1, MYORG and JAM2) have been associated with PFBC. MYORG was the first autosomal-recessive causal gene discovered in PFBC patients. PFBC is also a clinically heterogeneous disorder. Patients mostly present with movement disorders, cognitive impairment and psychiatric symptoms, and acute cerebrovascular attacks are rare. Here, we report the case of a PFBC patient with a novel compound heterozygous mutation in MYORG presenting with an acute isc

SUBMITTER: Yang Q 

PROVIDER: S-EPMC9073774 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature