Cree disease, also known as Cree leukoencephalopathy or Cree leukodystrophy, is a rare and severe genetic disorder that mainly affects the brain. It is an autosomal recessive leukodystrophy, meaning it is caused by a faulty gene passed down from both parents. This disorder primarily affects individuals of Cree and Chippewayan descent, native North American populations.
Cree disease is characterized by a rapid degeneration of the white matter in the brain, which is responsible for transmitting nerve signals. This degeneration leads to a progressive loss of brain function, causing severe developmental delays, seizures, and eventual death.
While the exact cause of Cree disease remains unknown, it is linked to mutations in the EIF2B5 gene, which plays a vital role in protein synthesis. Interestingly, Cree leukoencephalopathy has been found to be allelic with other leukodystrophies like CACH/VWM disease (Cerebro-Costo-Mandibular syndrome/Vanishing White Matter disease).
Common symptoms of Cree disease include:
- Developmental delays: Difficulty with movement, speech, and cognitive skills
- Seizures: Uncontrolled electrical activity in the brain
- Loss of muscle control: Weakness and difficulty with movement
- Vision problems: Loss of eyesight or blurry vision
- Respiratory problems: Difficulty breathing
- Feeding difficulties: Trouble swallowing or eating
There is currently no cure for Cree disease, and treatment focuses on managing symptoms and providing supportive care.
