"T1: T1 signal in calcification is variable (can be hypo-, iso-, or hyperintense). T1 hyperintensity, when present, has been attributed to the surface area effect of the calcium crystals 4"
"SWI: signal loss 8 and is the most sensitive MRI sequence for detecting calcification"
"May show decreased 18F-FDG uptake, particularly in the basal ganglia."
"Although the terms Fahr disease and Fahr syndrome are often used interchangeably, Fahr disease more accurately refers to a primary, idiopathic or known genetic disease manifest by basal ganglia calcification with no identifiable metabolic cause. Newer terminology refers to this as primary familial brain calcification (PFBC)."
"Although the terms Fahr disease and Fahr syndrome are often used interchangeably, Fahr disease more accurately refers to a primary, idiopathic or known genetic disease manifest by basal ganglia calcification with no identifiable metabolic cause. Newer terminology refers to this as primary familial brain calcification (PFBC)."
"SLC20A2: encodes sodium-dependent phosphate transporter 2 (PiT2)"
"XPR1: encodes for a retroviral receptor with phosphate export function"
"PDGFB: encodes for platelet-derived growth factor beta (PDGF-b)"
"PDGFRB: encodes for platelet-derived growth factor receptor beta (PDGFR-b)"
"MYORG: encodes for a protein in astrocytes"
"JAM2: encodes for a protein regulating endothelial cell adhesion"
"Epstein-Barr virus (EBV)"
Expected headings
"Primary familial brain calcification (Fahr disease)"
"Fahr syndrome (secondary)"
"FDG-PET"
"Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterised by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy."
"The clinical presentation is variable, with many individuals remaining asymptomatic. Severe forms can later present with parkinsonism, other movement disorders (e.g. chorea, dystonia), headache, seizures and epilepsy, psychosis, depression, and progressive cognitive impairment 6,9."
"Fahr disease is characterised by deposition of calcium in the walls of the capillaries and larger arteries and veins. Other compounds, such as mucopolysaccharides, and elements, including magnesium, zinc, aluminium, and iron, have also been found deposited in the vessels."
"Calcification can be found in the globus pallidus, putamen, caudate, thalamus, cerebellum (especially in the dentate nucleus), corona radiata, and subcortical white matter."
"Although the terms Fahr disease and Fahr syndrome are often used interchangeably, Fahr disease more accurately refers to a primary, idiopathic or known genetic disease manifest by basal ganglia calcification with no identifiable metabolic cause. Newer terminology refers to this as primary familial brain calcification (PFBC)."
"If there is an underlying metabolic, infective or other cause, the condition is labelled Fahr syndrome 6."
"vasculitis (e.g. systemic lupus erythematosus)"
"mitochondrial disorders (e.g. Kearns-Sayre syndrome)"
"Primary familial brain calcification (Fahr disease) progresses steadily, and there is no known cure or specific treatment, thus management is supportive depending on the clinical manifestations. There is a correlation between the extent of brain calcification and the symptom severity 11."