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Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.
- Source :
-
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Nov; Vol. 40 (11), pp. 2251-2263. Date of Electronic Publication: 2019 Jul 02. - Publication Year :
- 2019
-
Abstract
- 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.
- Subjects :
- Humans
Xenotropic and Polytropic Retrovirus Receptor
Autoimmune Diseases of the Nervous System
Basal Ganglia Diseases genetics
Basal Ganglia Diseases metabolism
Basal Ganglia Diseases pathology
Basal Ganglia Diseases physiopathology
Calcinosis genetics
Calcinosis metabolism
Calcinosis pathology
Calcinosis physiopathology
Cockayne Syndrome
Hypoparathyroidism
Lupus Vasculitis, Central Nervous System
Mitochondrial Diseases
Nervous System Malformations
Neurodegenerative Diseases genetics
Neurodegenerative Diseases metabolism
Neurodegenerative Diseases pathology
Neurodegenerative Diseases physiopathology
Neurotoxicity Syndromes
Pseudohypoparathyroidism
Subjects
Details
- Language :
- English
- ISSN :
- 1590-3478
- Volume :
- 40
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
- Publication Type :
- Academic Journal
- Accession number :
- 31267306
- Full Text :
- https://doi.org/10.1007/s10072-019-03998-x