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
. 2021 Aug 11;8(7):1159-1161.
doi: 10.1002/mdc3.13320. eCollection 2021 Oct.

Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi-Goutières Syndrome

Catarina Mendes Pinto  1 , João Freixo  2   3 , Ana Filipa Brandão  2   3 , Marina Magalhães  4
Affiliations

Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi-Goutières Syndrome

Catarina Mendes Pinto et al. Mov Disord Clin Pract. .
No abstract available

Keywords: ADAR1; Aicardi‐Goutières; MRI; calcifications; striatal necrosis.

PubMed Disclaimer

Conflict of interest statement

No funding was used for this work. The authors declare no conflict of interest.

Figures

FIG 1
FIG 1
Axial CT scans showing multiple calcifications on the pons. There was a subtle calcification on right putamen (arrowhead). The remaining basal ganglia, internal capsule, white matter and dentate nucleus showed no calcification.
FIG 2
FIG 2
(A) Axial MRI T2*‐weighted image revealing hypointensity consistent with calcifications; (B) axial T2 FLAIR image and (C) axial T2 image showing symmetric hyperintensity in the putamina with associated atrophy; (D) coronal T2 image showing symmetric hyperintensity in the putamina with associated atrophy. No changes were present in the white matter.
FIG 3
FIG 3
Electropherogram of the identified causative variants in the index and both parents. The c.577C > G (p.(Pro193Ala)) variant was paternally inherited, while the c.3116A > G (p.(Lys1039Arg)) was present in the mother.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. La Piana R, Uggetti C, Roncarolo F, et al. Neuroradiologic patterns and novel imaging findings in Aicardi‐Goutières syndrome. Neurology 2016;86(1):28–35. - PMC - PubMed
    1. Livingston JH, Lin J‐P, Dale RC, Gill D, Brogan P, Munnich A, Crow YJ. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet 2013;51(2):76–82. - PubMed

LinkOut - more resources