Abstract
Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of Aicardi-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 815-819 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 164 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2014 |
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Keywords
- ADAR1
- Aicardi-Goutières syndrome
- Infantile bilateral striatal necrosis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). / La Piana, Roberta; Uggetti, Carla; Olivieri, Ivana; Tonduti, Davide; Balottin, Umberto; Fazzi, Elisa; Orcesi, Simona.
In: American Journal of Medical Genetics, Part A, Vol. 164, No. 3, 03.2014, p. 815-819.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6)
AU - La Piana, Roberta
AU - Uggetti, Carla
AU - Olivieri, Ivana
AU - Tonduti, Davide
AU - Balottin, Umberto
AU - Fazzi, Elisa
AU - Orcesi, Simona
PY - 2014/3
Y1 - 2014/3
N2 - Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of Aicardi-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrome.
AB - Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of Aicardi-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrome.
KW - ADAR1
KW - Aicardi-Goutières syndrome
KW - Infantile bilateral striatal necrosis
UR - http://www.scopus.com/inward/record.url?scp=84894259907&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84894259907&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36360
DO - 10.1002/ajmg.a.36360
M3 - Article
C2 - 24376015
AN - SCOPUS:84894259907
VL - 164
SP - 815
EP - 819
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -