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Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

Batla, A; Tai, XY; Schottlaender, L; Erro, R; Balint, B; Bhatia, KP; (2016) Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism & Related Disorders , 37 pp. 1-10. 10.1016/j.parkreldis.2016.12.024. Green open access

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Introduction There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Methods We performed a Medline search, from 1st Jan 2012 through to 7th November 2016, for publications with confirmed mutations of SCL20A2, PDGFB, PDGFRB, and XPR1 and found twenty papers with 137 eligible cases. A second search was done for publications of cases with Pseudohypoparathyroidism or pseudopseudohypoparathyroidism, and found 18 publications with 20 eligible cases. Results SLC20A2 was the most common gene involved with 75 out of 137 cases included with PFBC (55%) followed by PDGFB (31%) and PDGFRB (11%). Statistically significant correlation was found between the presence of parkinsonism with SLC20A2 mutations, headache in PDGFB and generalised tonic-clonic seizures in patients with pseudohypoparathyroidism. Conclusion We combine statistical analysis and clinical inference to suggest a diagnostic algorithm based on the observations in this study to help with investigation of a patient with neurological features and brain calcification.

Type: Article
Title: Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.parkreldis.2016.12.024
Publisher version: https://doi.org/10.1016/j.parkreldis.2016.12.024
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Fahr's disease, Basal ganglia calcification, SLC20A2, Hypoparathyroid, Primary familial brain calcification, BASAL GANGLIA CALCIFICATION, PSEUDOHYPOPARATHYROIDISM TYPE-IB, JAPANESE FAMILY, SLC20A2 GENE, PDGF-B, MUTATION, SEIZURES, SPECTRUM, DISEASE, PATIENT
URI: http://discovery.ucl.ac.uk/id/eprint/10045094
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