Genetic Testing

ALSP is a disease caused by a rare mutation in the CSF1R gene on chromosome 5. It is an autosomal dominant disease, meaning that each child born to someone who has the CSF1R gene mutation has a 50% chance of also having this mutation. Because ALSP is often diagnosed after the childbearing years, most individuals have already had children by the time they are aware they have the disease. Currently there is no newborn genetic testing for the CSF1R gene mutation that causes ALSP.

The CSF1R mutation affects cells within the body that are part of the immune system. These cells are called macrophages and microglia. The mutation causes neurons to be misshapen due to the presence of spheroids in part of the cell. Macrophages take myelin away from the misshaped neurons which causes further damage. The CSF1R mutation also leads to underactive microglia, cells that are normally protective for neurons. The combination of neuron spheroids, lack of myelin, and underactive microglia are what cause the symptoms of ALSP.

The Detect Leukodystrophy program is available for patients in the United States! The genetic test is free for anyone who may be affected by a leukodystrophy. The patient is responsible for the cost of the Genetic Counselor. Sisters’ Hope Foundation will reimburse the cost of the required genetic counseling. Contact heidi@sistershopefoundation.org for more details. https://www.invitae.com/en/leukodystrophies/

Genetic Testing for ALSP patients in Canada:

If you are an ALSP patient located in Canada and are interested in pursuing genetic testing through the Invitae Leukodystrophy program, visit a healthcare professional in your area to initiate genetic testing. 

For more information about genetic testing, visit the CDC’s page.

CDC Website | Glossary of ALSP Terms