Aicardi—Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population

I D.V.; Seregin S.A.; Proskokova T.N.

doi:https://doi.org/10.17116/jnevro2025125011131

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Abstract:

Aicardi-Goutieres syndrome (AGS) is a rare hereditary disorder with different types of inheritance manifested by progressive leukoencephalopathy with early onset, sharing common features with autoimmune disease. This article describes the first Russian case of AGS type 6 (AGS6) associated with compound heterozygote c.577C>G (p.Pro193Ala)+c.2304G>A (p.Trp768*) in ADAR and provides a more in-depth understanding of AGS6 by summarizing the worldwide literature and suggesting models for practitioners to diagnose patients with clinically suspected AGS.

Keywords:

Aicardi-Goutieres syndrome

cerebral palsy

ADAR gene

sequencing

Authors:

I D.V.

Khabarovsk Center for the Development of Psychology and Childhood «Psylogia»;
Far-East State Medical University

Scopus AuthorID: 57226670660
ORCID: 0000-0002-9967-0279

Seregin S.A.

Clinic Expert Khabarovsk

ORCID: 0000-0001-7495-7153

Proskokova T.N.

Far-East State Medical University

ORCID: 0000-0002-5209-2440

Received:

05.09.2024

Accepted:

26.09.2024

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References:

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