Idiopathic basal ganglia calcification‐associated PDGFRB mutations impair the receptor signalling

Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling

Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. The goal of the present study was to determine whether these mutations ...

fahr disease: idiopathic basal ganglia calcification

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Fahr disease: Idiopathic basal ganglia calcification

Familial idiopathic basal ganglia calcification (Fahr’s disease)

Familial idiopathic basal ganglia calcification (Fahr`s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr`s disease have been reported, predominantly with autosomal-dom...

Basal ganglia calcification in idiopathic hypoparathyroidism

ABSTRACT: Hypoparathyroidism refers to a group of disorders in which extracellular calcium levels cannot be maintained within the normal range due to relative or absolute deficiency of parathyroid hormone. Clinically, hypoparathyroidism manifests predominantly as neuromuscular dysfunction caused by hypocalcemia. Basal ganglia calcification in particular is associated with hypoparathyroidism. Tw...