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Adult-onset Alexander disease with brainstem and cervical cord enhancing lesions

Abstract

Leukodystrophies are a group of genetic diseases with diverse clinical features and prominent involvement of the central nervous system white matter. We describe a 27-year-old man who presented with a progressive neurological disease, and striking involvement of the brainstem and symmetrical white matter lesions on MR scanning. Having excluded several other causes of leukodystrophy, we confirmed Alexander disease when a genetic panel showed a probable pathogenic variant in GFAP: p.Leu359Pro. Clinicians should suspect Alexander disease in people with a progressive neurological motor decline who has pyramidal and bulbar signs and compatible neuroimaging.

  • NEUROGENETICS
  • IMAGE ANALYSIS
  • NEURORADIOLOGY
  • SPASTICITY

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

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