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Updated: Sep 27, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Atypical focal MRI lesions in a case of juvenile Alexander's disease
Eva Neumaier Probst1, Christian Hagel, Vanja Weisz
1Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany. eneumaie@uke.uni-hamburg.de
Abstract:
We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.
Insights
This study details a rare juvenile Alexander's disease case with unusual MRI findings and elevated CSF lactate. Diagnosis was confirmed by identifying a GFAP gene mutation, typically seen in infantile forms.
Area of Science:
- Neuroscience
- Genetics
- Neuropathology
Background:
- Alexander's disease is a rare, progressive, demyelinating neurological disorder.
- It is characterized by the presence of Rosenthal fibers in the white matter of the brain.
- Mutations in the glial fibrillary acidic protein (GFAP) gene are the known cause.
Observation:
- A juvenile patient presented with atypical focal lesions on magnetic resonance imaging (MRI).
- Cerebrospinal fluid (CSF) analysis revealed elevated lactate levels.
- Neuropathological examination showed diffuse accumulation of Rosenthal fibers in the brain and spinal cord.
Findings:
- The neuropathological findings confirmed Alexander's disease.
- Genetic analysis detected a specific mutation in exon 1 of the GFAP gene (c.249G>A).
- This GFAP mutation, previously associated with infantile Alexander's disease, was identified in this juvenile case.
Implications:
- This case expands the phenotypic spectrum of Alexander's disease, particularly concerning GFAP mutations.
- Atypical MRI findings and elevated CSF lactate may indicate Alexander's disease in juvenile patients.
- Understanding genotype-phenotype correlations is crucial for diagnosing and managing Alexander's disease variants.
