Alexander Disease

Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.

Also Known As:

Alexander's Disease; Demyelinogenic Leukodystrophy; Dysmyelinogenic Leukodystrophy; Fibrinoid Degeneration of Astrocytes; Leukodystrophy with Rosenthal Fibers; Alexanders Disease

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Alexander Disease: 246
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Alexander Disease: 246
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Alexander Disease: 246
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Alexander Disease: 246
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Alexander Disease: 246
  - Nervous System Heredodegenerative Disorders: 62
    - Alexander Disease: 246
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Alexander Disease: 246
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Alexander Disease: 246

Heather R Minkel Selected Research

Heather R Minkel Research Topics

Disease

Drug/Important Bio-Agent (IBA)