Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian adults. Recentl...

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Bibliographic Details
Main Authors: Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka
Format: Article
Language:English
Published: Termedia Publishing House 2016-12-01
Series:Folia Neuropathologica
Subjects:
bilateral striatal necrosis
ADAR gene
whole exome sequencing
LS differentiation
Online Access:https://www.termedia.pl/Bilateral-striatal-necrosis-caused-by-ADAR-mutations-in-two-siblings-with-dystonia-and-freckles-like-skin-changes-that-should-be-differentiated-from-Leigh-syndrome,20,28981,1,1.html

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