Cree

Cree (Medical Term)

Cree (/kriː/; etymology: from the historical autonym Kirištinoːwak in the Cree language) is a term used in the medical field to refer to a rare genetic disorder known as Cree leukoencephalopathy, also known as Spongy Degeneration of the Brain or Canavan Disease.

Definition

Cree leukoencephalopathy is a severe neurological disorder characterized by symptoms such as mental retardation, loss of motor skills, and a shortened lifespan. The disorder is named after the Cree people of Quebec, Canada, where it was first identified.

Symptoms

Symptoms of Cree leukoencephalopathy include mental retardation, seizures, hypotonia (reduced muscle tone), and microcephaly (abnormally small head size). These symptoms usually appear in the first year of life and progress rapidly.

Causes

Cree leukoencephalopathy is caused by mutations in the ASPA gene. This gene provides instructions for producing an enzyme called aspartoacylase, which is necessary for breaking down a certain compound in the brain. When this enzyme is missing or not working properly, the compound builds up and damages the brain's white matter, leading to the symptoms of the disorder.

Diagnosis

Diagnosis of Cree leukoencephalopathy is based on the presence of characteristic clinical symptoms, neuroimaging findings, and genetic testing confirming a mutation in the ASPA gene.

Treatment

There is currently no cure for Cree leukoencephalopathy. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, medication to control seizures, and special education services for children with developmental delays.

Prognosis

The prognosis for individuals with Cree leukoencephalopathy is generally poor, with most affected individuals not surviving past childhood. However, the course of the disease can vary, and some individuals may live into adolescence or early adulthood.

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