Aicardi-Goutières syndrome: Differential diagnosis and aetiopathogenesis

Giovanni Lanzi, Stefano D'Arrigo, Gea Drumbl, Carla Uggetti, Elisa Fazzi

Research output: Contribution to journalArticle

Abstract

Aicardi-Goutieres syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. The syndrome is characterised by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis and raised interferon-alpha (INF-alpha) in the CSF. AGS is diagnosed on the basis of a clinical picture characterised by microcephaly and by the onset of encephalopathy associated with severe psychomotor delay, spasticity and extrapyramidal signs. CT is very important in the diagnosis of AGS, demonstrating clearly the presence of calcifications at basal ganglia level: these are often bilateral and symmetrical. CT scan and MRI reveal leukodystrophy and progressive cerebral atrophy. A raised level of INF-alpha in the CSF constitutes a marker of the syndrome: this level, which falls with age, is higher in the CSF than in the serum, suggesting intrathecal synthesis. Differential diagnosis in AGS is carried out to exclude the presence of other neurological and endocrinelogical pathologies characterised by the presence of intracranial calcification; considering the white matter abnormalities, it is necessary to exclude forms of leukodystrophy associated with metabolic defects, known or otherwise. One fundamental aspect that remains to be clarified is the aetiopathogenetic mechanism underlying AGS: the most well-founded hypotheses are reported. There does not exist, to date, any causal therapy for AGS, although genetic studies, particularly those focusing on interferon-regulating genes, may well provide some therapeutic indications.

Original languageEnglish
Pages (from-to)71-75
Number of pages5
JournalFunctional Neurology
Volume18
Issue number2
Publication statusPublished - Apr 2003

Fingerprint

Aicardi Syndrome
Differential Diagnosis
Cerebrospinal Fluid
Microcephaly
Brain Diseases
Basal Ganglia
Interferon-alpha
Lymphocytosis
Inheritance Patterns
Interferons
Atrophy
Aicardi-Goutieres syndrome
Magnetic Resonance Imaging
Pathology
Therapeutics
Serum

Keywords

  • Aicardi-Goutières
  • Basal ganglia
  • Brain calcification
  • Interferon
  • Leukodystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Lanzi, G., D'Arrigo, S., Drumbl, G., Uggetti, C., & Fazzi, E. (2003). Aicardi-Goutières syndrome: Differential diagnosis and aetiopathogenesis. Functional Neurology, 18(2), 71-75.

Aicardi-Goutières syndrome : Differential diagnosis and aetiopathogenesis. / Lanzi, Giovanni; D'Arrigo, Stefano; Drumbl, Gea; Uggetti, Carla; Fazzi, Elisa.

In: Functional Neurology, Vol. 18, No. 2, 04.2003, p. 71-75.

Research output: Contribution to journalArticle

Lanzi, G, D'Arrigo, S, Drumbl, G, Uggetti, C & Fazzi, E 2003, 'Aicardi-Goutières syndrome: Differential diagnosis and aetiopathogenesis', Functional Neurology, vol. 18, no. 2, pp. 71-75.
Lanzi, Giovanni ; D'Arrigo, Stefano ; Drumbl, Gea ; Uggetti, Carla ; Fazzi, Elisa. / Aicardi-Goutières syndrome : Differential diagnosis and aetiopathogenesis. In: Functional Neurology. 2003 ; Vol. 18, No. 2. pp. 71-75.
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