Aicardi-Goutieres syndrome type 5

Aicardi-Goutieres syndrome type 5

A form of Aicardi-Goutieres syndrome (OMIM:612952), a genetically heterogeneous condition characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serology for prenatal infection—despite clinical features (thrombocytopaenia, hepatosplenomegaly and elevated hepatic transaminases, and intermittent fever) suggesting an infection. Severe neurologic defects present in infancy (e.g., microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), usually leading to death in early childhood.

Molecular pathology
Defects in SAMHD1, which encodes a putative nuclease involved in the innate immune response, cause Aicardi-Goutieres syndrome type 5.