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Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
by
Mostile, Giovanni
, Zappia, Mario
, Donzuso, Giulia
, Nicoletti, Alessandra
in
Basal ganglia
/ Blood-brain barrier
/ Calcium homeostasis
/ Cognitive ability
/ Homeostasis
/ Hypoparathyroidism
/ Magnetic resonance imaging
/ Movement disorders
/ Mutation
/ Neurosciences
/ Parathyroid hormone
/ Phosphorus
2019
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Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
by
Mostile, Giovanni
, Zappia, Mario
, Donzuso, Giulia
, Nicoletti, Alessandra
in
Basal ganglia
/ Blood-brain barrier
/ Calcium homeostasis
/ Cognitive ability
/ Homeostasis
/ Hypoparathyroidism
/ Magnetic resonance imaging
/ Movement disorders
/ Mutation
/ Neurosciences
/ Parathyroid hormone
/ Phosphorus
2019
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Do you wish to request the book?
Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
by
Mostile, Giovanni
, Zappia, Mario
, Donzuso, Giulia
, Nicoletti, Alessandra
in
Basal ganglia
/ Blood-brain barrier
/ Calcium homeostasis
/ Cognitive ability
/ Homeostasis
/ Hypoparathyroidism
/ Magnetic resonance imaging
/ Movement disorders
/ Mutation
/ Neurosciences
/ Parathyroid hormone
/ Phosphorus
2019
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Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
Journal Article
Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features
2019
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Overview
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 bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr’s Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms. On the other hand, secondary forms, also identified as Fahr’s syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. The underlying pathophysiology seems to be related to an abnormal calcium/phosphorus homeostasis and transportation and alteration of the blood-brain barrier.
Publisher
Springer Nature B.V
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