Batten disease is a rare inherited neurodegenerative disorder, marked by both brain atrophy (shrinkage) and seizures linked to excessive and uncontrolled electrical signaling between brain cells.
Imaging and other tests can detect these disease hallmarks by measuring changes in brain structures or activity.
Types of brain tests
Computed tomography (CT) scans
Computed tomography (CT) is an imaging technique that uses X-rays. A narrow beam of X-rays is directed from different angles at a patient’s brain. The machine is connected to a computer to generate cross-sectional images, like slices, that are then stacked together to form a three-dimensional picture. In Batten disease, CT is used to detect atrophy in brain areas.
In infantile Batten disease, the brain’s white matter — deeper brain areas that contain nerve fibers — is less dense and reduced compared to healthy people. The grey matter — found in both the brain and spinal cord and made up of cells — is very thin. Atrophy is found in both types of brain matter and in the cerebellum, a small region at the back of the brain that controls coordination and muscular activity. The brain stem, which links the brain to the spinal cord, is quite narrow.
Ventricles or cavities in the brain are also seen on CT scans to be enlarged and dilated (wide) in these patients.
CT findings usually correlate with disease symptoms, and brain abnormalities are more pronounced with disease progression.
Signs of juvenile Batten disease usually not be detected on CT scans in patients under age 9 with CT scans. In patients who are 9 and older, atrophy is detected mainly in outer brain regions. Neurological decline often correlates with the degree of atrophy evident.
Magnetic resonance imaging (MRI)
Magnetic resonance imaging (MRI) is a technique that works without using potentially harmful radiation. It creates an image with the help of a magnetic field.
Atrophy in different brain regions can be detected with MRI in patients with infantile, late infantile, and juvenile Batten disease. Atrophy cannot, however, be detected in children with juvenile Batten disease under age 10.
In juvenile Batten disease patients, it is important to know whether mutations exist in one or both copies of the disease-causing gene. The atrophy detected by MRI is less pronounced in patients with one mutated gene, compared to those with mutations in both gene copies, and may be a less effective measure of disease duration and progression.
Usefulness of tests
Tests of changes in the brain can help, together with other diagnostic tests, to determine Batten disease in a person. A genetic test, however, is necessary to confirm a diagnosis. These tests can also help to determine disease progression.
Because atrophy cannot be detected using CT scans and MRI in younger juvenile Batten disease patients — those under age 9 — it is not suitable as a diagnostic aid in this disease type. Symptoms of juvenile Batten disease usually become evident in children between ages 5 and 10.
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