Aicardi-Goutieres syndrome 5

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Aicardi-Goutieres syndrome 52016-11-24T14:49:50+00:00

Aicardi-Goutieres syndrome 5 

MOLECULAR MEDICINE

A form (OMIM:612952) of Aicardi-Goutieres syndrome, 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–e.g., thrombocytopenia, hepatosplenomegaly, elevated hepatic transaminases, and intermittent fever, suggesting an infection. Severe neurologic defects present in infancy, e.g., microcephaly, spasticity, dystonic posturing, profound psychomotor retardation and usually, death occurs in early childhood.

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

References http://www.uniprot.org/uniprot/Q9Y3Z3

http://www.omim.org/entry/612952

 

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