Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Nov;40(11):2251-2263.
doi: 10.1007/s10072-019-03998-x. Epub 2019 Jul 2.

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

Giulia Donzuso  1 , Giovanni Mostile  1 , Alessandra Nicoletti  1 , Mario Zappia  2
Affiliations
Review

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

Giulia Donzuso et al. Neurol Sci. 2019 Nov.

Erratum in

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.

Keywords: Basal ganglia; Brain calcinosis; Fahr’s syndrome; Hypoparathyroidism.

PubMed Disclaimer

Conflict of interest statement

The author declares that she has no conflict of interest.

Figures

Fig 1
Fig 1
Brain MRI showing T1-w hyperintensity in basal ganglia (a) and severe T2*-GRE hypointensities in the same regions (b). Brain CT scan showing diffuse symmetric calcifications involving basal ganglia (c), and dentate nucleus (d). GRE gradient recalled echo, FLAIR fluid-attenuated inversion recovery
See this image and copyright information in PMC

References

    1. Manyam BV. What is and what is not ‘Fahr’s disease’. Parkinsonism Relat Disord. 2005;11:73–80. - PubMed
    1. Savino E, Soavi C, Capatti E, Borrelli M, Vigna GB, Passaro A, Zuliani G. Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature. BMC Neurol. 2016;16:165. - PMC - PubMed
    1. Yamada M, Asano T, Okamoto K, Hayashi Y, Kanematsu M, Hoshi H, Akaiwa Y, Shimohata T, Nishizawa M, Inuzuka T, Hozumi I. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int. 2013;13(3):706–710. - PubMed
    1. Simoni M, Pantoni L, Pracucci G, Palmertz B, Guo X, Gustafson D, Skoog I. Prevalence of CT-detected cerebral abnormalities in an elderly Swedish population sample. Acta Neurol Scand. 2008;118(4):260–267. - PubMed
    1. Fahr T. Idiopathische verkalkung der hirngefässe. Zentrabl Allg Pathol. 1930;50:129–133.

MeSH terms

Supplementary concepts