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Alexander disease.

Albee Messing1

  • 1Waisman Center and Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI, United States.

Handbook of Clinical Neurology
|February 27, 2018
PubMed
Summary

Alexander disease is a rare central nervous system disorder characterized by Rosenthal fibers. Genetic analysis reveals mutations in GFAP, the gene for glial fibrillary acidic protein, are the primary cause.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Alexander disease is a rare, fatal central nervous system disorder.
  • Characterized by the presence of Rosenthal fibers in astrocytes.
  • Recently, mutations in the GFAP gene have been identified as the primary genetic cause.

Purpose of the Study:

  • To review the genetic basis of Alexander disease.
  • To discuss the diagnostic approaches for Alexander disease.
  • To explore the relationship between genotype and phenotype in Alexander disease.

Main Methods:

  • Review of existing literature on Alexander disease genetics and pathology.
  • Analysis of diagnostic criteria and genetic testing methodologies.
  • Correlation of GFAP mutation data with clinical presentations.
Keywords:
Alexander diseaseGFAPastrocyteleukodystrophy

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Main Results:

  • Mutations in the Glial Fibrillary Acidic Protein (GFAP) gene are identified in nearly all Alexander disease patients.
  • No other genetic causes have been identified to date.
  • A wide spectrum of clinical phenotypes is observed despite genetic homogeneity.

Conclusions:

  • GFAP gene mutations are the definitive genetic cause of Alexander disease.
  • Understanding the genetic landscape is crucial for diagnosis.
  • Further research is needed to elucidate the mechanisms linking GFAP mutations to disease pathogenesis and diverse clinical outcomes.