title: The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.
abstract: Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.
authors.affiliation: Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology, University of Pavia, Via Mondino 2, 27100 Pavia, Italy. glanzi@unipv.it
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
authors.forename: E
authors.initials: E
authors.lastname: Fazzi
authors.forename: S
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: S
authors.initials: S
authors.lastname: Orcesi
authors.forename: I
authors.initials: I
authors.lastname: Maraucci
authors.forename: C
authors.initials: C
authors.lastname: Uggetti
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: P
authors.initials: P
authors.lastname: Lebon
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000134:cerebrospinal fluid / Q000503:physiopathology*; D001284:Atrophy / Q000151:congenital / Q000473:pathology / Q000503:physiopathology*; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D002114:Calcinosis / Q000151:congenital / Q000473:pathology / Q000503:physiopathology*; D002555:Cerebrospinal Fluid / Q000737:chemistry / Q000166:cytology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004827:Epilepsy / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D020271:Heredodegenerative Disorders, Nervous System / Q000097:blood / Q000134:cerebrospinal fluid / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016898:Interferon-alpha / Q000097:blood / Q000134:cerebrospinal fluid; D007558:Italy; D008137:Longitudinal Studies; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011859:Radiography; D035583:Rare Diseases; D012871:Skin Diseases / Q000503:physiopathology; D013577:Syndrome
chemical_list: D015415:Biomarkers; D016898:Interferon-alpha