PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases
responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in …

Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …

Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

Introduction There are now a number genes, known to be associated with familial primary
brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are …

Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can
explain approximately 40% of the familial cases of the rare neurodegenerative disorder …

Many conditions can present with accumulation of calcium in the brain and manifest with a
variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) …

Brain calcifications may be an incidental finding on neuroimaging in normal, particularly
older individuals, but can also indicate numerous hereditary and nonhereditary syndromes …

Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic
calcium deposits in the basal ganglia and other brain regions. The disease usually presents …

ABSTRACT Background Primary Familial Brain Calcification (PFBC) can manifest clinically
with a complex and heterogeneous array of symptoms, including parkinsonism, dysarthria …

Idiopathic basal ganglia calcification (IBGC), known as Fahr's disease, is a rare neurological
disorder characterized by metabolic, biochemical, neuroradiological and neuropsychiatric …