Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features

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.

Hypoparathyroidism with Fahr’s syndrome: A case report and review of the literature

“…It has the following characteristics: Autosomal dominant inheritance; age of onset is concentrated in 40-60 years old; large, progressive, bilateral symmetrical calcification of the basal ganglia; exclusive of infection, trauma, or poisoning; exclusive of mitochondrial or metabolic diseases or other systemic diseases[2,18]. For the past years, some mutations in genes that are related to Fahr’s disease had been identified, including SLC20A2 , PDGFRB , PDGFB , and XPR1 , together with novel mutations in the myogenic regulating glycosylase gene[19].…”

Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children

“…However, it is the method of choice for calcium detection and the assessment of basal ganglia calcifications (BGC), which is the most common site of calcifications in the central nervous system. However, they can occur also in the gray and white matter junction, cerebellar parenchyma, the thalamus and dentate nucleus [ 55 , 56 ]. In general population, the prevalence of BGC is not well established and is estimated at 2–12.5% [ 55 , 56 ].…”

“…However, they can occur also in the gray and white matter junction, cerebellar parenchyma, the thalamus and dentate nucleus [ 55 , 56 ]. In general population, the prevalence of BGC is not well established and is estimated at 2–12.5% [ 55 , 56 ]. BGC may occur as a primary/idiopathic disease or a secondary symptom of the condition leading to brain calcifications.…”

“…BGC may occur as a primary/idiopathic disease or a secondary symptom of the condition leading to brain calcifications. The pattern of basal ganglia calcifications may occur in [ 55 , 56 ]: chromosomal abnormalities: SLC20A2 8p11.21 PDGFRB 5q32 PDGFB 22q13.1 XPR1 1q25.3 MYORG 9p13.3; primary or secondary forms of the following: hypoparathyroidism, secondary hypoparathyroidism, infections (brucellosis, AIDS, toxoplasmosis, TORCH complex), autoimmune diseases (SLE); other conditions such as pseudohypoparathyroidism, Cockayne syndrome I and II, Aicardi–Goutières syndrome, mitochondrial diseases (MELAS, MERRF), Coats’ syndrome, toxic exposure to carbon monoxide, lead or other metals, neuroferritinopathy and NBIA. …”

“…Even 33% of HIV-infected children present with calcifications of the bilateral putamen and globus pallidus before the age of 10 months [ 55 , 56 ].…”