{Reference Type}: Case Reports
{Title}: Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.
{Author}: Videira G;Malaquias MJ;Laranjinha I;Martins R;Taipa R;Magalhães M;
{Journal}: Mov Disord Clin Pract
{Volume}: 7
{Issue}: 3
{Year}: Apr 2020
{Factor}: 4.514
{DOI}: 10.1002/mdc3.12903
{Abstract}: <B>UNASSIGNED: </B>Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy.<BR><B>UNASSIGNED: </B>AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed.<BR><B>UNASSIGNED: </B>A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal-onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans.<BR><B>UNASSIGNED: </B>AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.