Alexander disease

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Alexander disease
Alexander autopsy.jpg
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Macrocephaly, seizures, spasticity, developmental delay
Complications N/A
Onset Infancy, childhood, or adulthood
Duration Lifelong
Types N/A
Causes Mutations in the GFAP gene
Risks Genetic predisposition
Diagnosis MRI, genetic testing
Differential diagnosis Canavan disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease
Prevention N/A
Treatment Supportive care, physical therapy, anticonvulsants
Medication N/A
Prognosis Varies; generally poor in infantile form
Frequency Rare
Deaths N/A


Brain of a 4-year-old boy with Alexander disease
Alexander disease
Alexander disease

Alexander disease is a rare, progressive neurodegenerative disorder that primarily affects the central nervous system. It is classified under the group of leukodystrophies, which are disorders characterized by the destruction of white matter in the brain. The disease is caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), leading to the formation of abnormal protein aggregates known as Rosenthal fibers within astrocytes. These abnormalities impair the function of astrocytes, which are crucial for maintaining neuronal health, leading to progressive neurological decline.

Clinical Features[edit | edit source]

Alexander disease presents in different forms, classified based on the age of onset and severity:

  • Juvenile Form:
  • Onset occurs between ages 2 and 13 years.
  • Symptoms include:
  • Progressive ataxia (loss of coordination).
  • Dysarthria (difficulty speaking).
  • Dysphagia (swallowing difficulties).
  • Cognitive impairment and behavioral abnormalities.
  • Progressive muscle weakness.

Pathophysiology[edit | edit source]

Alexander disease results from mutations in the GFAP gene, leading to the accumulation of Rosenthal fibers—abnormal aggregates of glial fibrillary acidic protein within astrocytes. These fibers impair astrocyte function, disrupting their roles in:

This dysfunction leads to progressive demyelination, the hallmark of leukodystrophies. The loss of myelin disrupts neural signal transmission, resulting in the neurological symptoms observed in Alexander disease.

Diagnosis[edit | edit source]

The diagnosis of Alexander disease is based on a combination of clinical features, neuroimaging findings, and genetic testing.

  • Genetic Testing:
  • Identification of mutations in the GFAP gene confirms the diagnosis.
  • Testing is particularly useful in cases with atypical presentations.

Management[edit | edit source]

Currently, there is no cure for Alexander disease. Treatment is primarily supportive and focuses on managing symptoms:

  • Physical and Occupational Therapy:
  • Helps maintain motor function and prevent muscle contractures.
  • Speech Therapy:
  • Assists with communication difficulties and dysphagia management.

Research into targeted therapies, including gene therapy and pharmacological interventions to reduce GFAP accumulation, is ongoing.

Prognosis[edit | edit source]

The prognosis of Alexander disease varies depending on the age of onset:

  • Infantile form: Often leads to severe neurological disability and early mortality, typically within the first decade of life.
  • Juvenile form: Generally progressive but slower than the infantile form.
  • Adult form: Milder symptoms and a more prolonged disease course.

See Also[edit | edit source]

External Links[edit | edit source]





NIH genetic and rare disease info[edit source]

Alexander disease is a rare disease.

ights From Genetics]

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