Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Aicardi-Goutières syndrome: an expanding phenotype.

Neuropediatrics - 1 Jun 1998

McEntagart M, Kamel H, Lebon P, King M D

Abstract excerpt

The Aicardi-Goutières syndrome (AGS) is an autosomal recessive progressive encephalopathy associated with basal ganglia calcification, white-matter abnormality, cerebro-spinal fluid (CSF) pleocytosis and elevated CSF interferon alpha (IFN alpha). Two brothers of consanguineous parents who present...

Topics

Basal Ganglia Diseases
Brain
Brain Diseases
Calcinosis
Consanguinity
Disease Progression
Genes, Recessive
Humans
Infant
Infant, Newborn
Interferon-alpha
Lymphocytosis
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neural Pathways

Nuclear Family

Pedigree

Phenotype

Syndrome

Source

Identifiers

PMID: 9706629
DOI: 10.1055/s-2007-973555

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9706629-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aicardi-Goutières syndrome: an expanding phenotype.PMID 9706629Read ↗

Aicardi-Goutières syndrome (AGS).Semantic proximity Read ↗

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.Semantic proximity Read ↗

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.Semantic proximity Read ↗

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.Semantic proximity Read ↗

A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome.Semantic proximity Read ↗

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.Semantic proximity Read ↗

Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients.Semantic proximity Read ↗

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.Semantic proximity Read ↗

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.Semantic proximity Read ↗

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.Semantic proximity Read ↗

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.Semantic proximity Read ↗

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.