Aicardi-Goutières syndrome (AGS) is a genetically determined neurological and inflammatory disease caused by mutations in 7 different genes including ADAR. Patients usually present during the first year of life with progressive encephalopathy. Intellectual disability, developmental delay, spastic paraparesis, epilepsy, dystonia, microcephaly and chilblain lesions are the most common clinical manifestations. AGS patients show bilateral striatal necrosis, intracranial calcifications, white matter abnormalities or cerebral atrophy on brain imaging. ADAR encodes a protein that catalyzes the hydrolytic deamination of adenosine to inosine in dsRNA and results in elevated expression of interferon-stimulated genes. Typically, the mutations are inherited in a recessive manner.

We identified ADAR gene variants through next generation sequencing in four patients that present with a predominant clinical picture of progressive generalized dystonia. Other features include spasticity and intermittent pyrexia with regression. Two patients had clear infectious precipitants. Brain imaging was non-contributory for three of them. No improvement was seen with standard dystonia medications.  No clear genotype phenotype correlation was found.