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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Primary familial brain calcification (see Fahr's syndrome) is a rare disease involving bilateral calcifications in the brain, predominantly in basal ganglia but also cerebellum, thalamus, and brainstem in patients presenting with diverse neurologic (e.g. movement disorders, parkinsonism, seizures, headache) features and psychiatric (e.g ...
NAA60 was found to be important in brain phosphate homeostasis. It was identified as causative of the genetic disease primary familial brian calcification (PFBC). [9] PFBC is a neurodegenerative disease characterized by bilateral calcification distributed in the basal ganglia, thalamus, and cerebellum.
Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, ... Brain, e.g. primary familial brain calcification ...
Mutations in XPR1 that disrupt its phosphate export function are linked to Primary familial brain calcification (PFBC), [7] a neurological condition characterized by abnormal hydroxyapatite deposits in the brain.
The researchers used RNA sequencing and brain-mapping tools to analyze more than 1.2 million brain cells from young mice (2 months old) and older mice (18 months old).
Baby Has $5 Million Surgery to Remove Left Side of Brain at Just 4 Weeks Old. Now He's Waiting for the Next One (Exclusive) Hannah Sacks. December 17, 2024 at 4:00 AM.
Can we imagine ourselves back on that awful day in the summer of 2010, in the hot firefight that went on for nine hours? Men frenzied with exhaustion and reckless exuberance, eyes and throats burning from dust and smoke, in a battle that erupted after Taliban insurgents castrated a young boy in the village, knowing his family would summon nearby Marines for help and the Marines would come ...