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Alexander disease.

Neil Gordon1

  • 1Huntlywood, 3 Styal Road, Wilmslow SK9 4AE, UK. neil-gordon@doctors.org.uk

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|November 19, 2003
PubMed
Summary
This summary is machine-generated.

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Alexander disease is a rare neurological disorder affecting astrocytes. Diagnosis involves identifying Rosenthal fibers, elevated proteins in cerebrospinal fluid, and GFAP gene analysis, though causes remain theoretical.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Alexander disease is a rare astrocytic disorder.
  • It presents in infantile, juvenile, and adult forms with distinct clinical features.
  • The exact etiology is not fully understood.

Purpose of the Study:

  • To review the clinical presentation and differential diagnosis of Alexander disease.
  • To discuss diagnostic methods, including histopathology and genetic markers.
  • To explore potential causes and the role of Rosenthal fibers.

Main Methods:

  • Review of clinical presentations across different age groups.
  • Discussion of diagnostic techniques: brain biopsy (Rosenthal fibers), cerebrospinal fluid analysis (B-crystallin, heat shock protein), GFAP gene analysis.

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  • Examination of pathological findings: demyelination, Rosenthal fiber distribution.

    • Main Results:

    • Alexander disease subtypes present uniquely, mimicking other neurological conditions.
    • Rosenthal fibers are a key diagnostic feature, found in specific brain areas.
    • GFAP gene mutations are implicated, and specific proteins are elevated in CSF.

    Conclusions:

    • Alexander disease diagnosis relies on a combination of clinical, pathological, and genetic findings.
    • Rosenthal fibers may indicate astrocyte dysfunction and are central to diagnosis.
    • The underlying cause is likely multifactorial, possibly a response to an unknown stressor.