open access

Vol 52, No 3 (2018)
Short communications
Submitted: 2018-02-27
Get Citation

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant

Takuya Konno, Patrick R. Blackburn, Todd D. Rozen, Jay A. van Gerpen, Owen A. Ross, Paldeep S. Atwal, Zbigniew K. Wszolek
DOI: 10.1016/j.pjnns.2018.03.007
·
Neurol Neurochir Pol 2018;52(3):386-389.

open access

Vol 52, No 3 (2018)
Short communications
Submitted: 2018-02-27

Abstract

Aim of the study

To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation.

Materials and methods

We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing.

Results

In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation.

Conclusions and clinical implications

For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation.

Abstract

Aim of the study

To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation.

Materials and methods

We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing.

Results

In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation.

Conclusions and clinical implications

For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation.

Get Citation

Keywords

Primary familial brain calcification, Idiopathic basal ganglia calcification, SLC20A2, Anticipation

About this article
Title

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 52, No 3 (2018)

Pages

386-389

DOI

10.1016/j.pjnns.2018.03.007

Bibliographic record

Neurol Neurochir Pol 2018;52(3):386-389.

Keywords

Primary familial brain calcification
Idiopathic basal ganglia calcification
SLC20A2
Anticipation

Authors

Takuya Konno
Patrick R. Blackburn
Todd D. Rozen
Jay A. van Gerpen
Owen A. Ross
Paldeep S. Atwal
Zbigniew K. Wszolek

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk, Poland
tel.:+48 58 320 94 94, fax:+48 58 320 94 60, e-mail: viamedica@viamedica.pl