Format

Send to

Choose Destination
Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27.

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

Author information

1
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
2
Center for Biomedicine, European Academy Bozen/Bolzano (EURAC), Bolzano, Italy-Affiliated Institute of the University of Lübeck, Lübeck, Germany.
3
Graduate School Lübeck, Lübeck, Germany.
4
Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany.
5
Department of Radiology, Hospital of Bresanone/Brixen, Italy.
6
Department of Radiology, Central Hospital, Bozen/Bolzano, Italy.
7
Department of Neurology, Hospital of Bussolengo, Verona, Italy.
8
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
9
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
10
Department of Neurology, Klinikum Kassel, Kassel, Germany.

Abstract

BACKGROUND:

Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci. We here elucidate the genetic cause of primary familial brain calcification in the 'IBGC2' kindred.

METHODS:

We sequenced known primary familial brain calcification genes and quantified SLC20A2 and PDGFB. Moreover, CT scans of affected and unaffected family members were evaluated by 2 blinded neuroradiologists for distribution of brain calcification.

RESULTS:

A heterozygous multiexonic SLC20A2 deletion was detected in several affected family members. A reevaluation of neuroimaging data revealed a subset of mutation-negative individuals with only mild and/or unilateral calcification.

CONCLUSIONS:

The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. We suggest an algorithm for predicting the chances of finding genetic mutations that has to be validated in further studies. Our study enhances criteria for the evaluation of neuroimaging data, contributing further to the much needed harmonization of diagnostic and research data collection in primary familial brain calcification. © 2016 International Parkinson and Movement Disorder Society.

KEYWORDS:

IBGC; PFBC; SLC20A2; exonic deletions; quantitative PCR (qPCR)

PMID:
27671522
DOI:
10.1002/mds.26768
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center