ALSP: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Autosomal dominant: a pattern of inheritance where a person has one normal and one mutated copy of a gene

Axonal spheroids: swelling within part of a neuron that transmits signals; usually found with a loss of myelin

Chromosome: a long piece of DNA that carries genetic material called genes

CSF1R: colony-stimulating factor 1 receptor

CT: computed tomography combines multiple x-rays to produce a more complete image of the body

Gene: part of a chromosome that carries enough DNA to make a specific characteristic of a person

Glia: supportive cells in the nervous sytem

HSCT: hematopoietic stem cell therapy; a type of bone marrow transplant that uses donor stem cells to replace damaged or mutated stem cells

Leukodystrophy: rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and nerves that are caused by genetic mutations that lead to loss of myelin

Leukoencephalopathy: a type of leukodystrophy that mainly affects the brain and spinal cord

MRI: magnetic resonance imaging uses magnetic fields and radio waves to produce images of the body

Macrophage: a large white blood cell of the immune system that attacks foreign things in the body

Microglia: a type of glia cell that acts like a macrophage in the brain

Multiple sclerosis: a nervous system disease that affects the brain and spinal cord, and that damages myelin

Mutation: a change in the structure of a gene that may change the way the gene functions or what it makes

Myelin: insulating sheath around nerve fibers that help speed up neuron signals

Neurons: cells in the brain, spinal cord, and nerves that are responsible for transmitting signals from one part of the body to another

Parkinsonian tremor: an involuntary tremor that happens at rest but lessens during sleep or activity

You are not alone.

ALSP and Leukodystrophy Support Websites


Caregivers play an important role in the lives of individuals with ALSP. A diagnosis of ALSP can be difficult, emotional, and overwhelming for everyone involved, especially caregivers. As a caregiver, you will have questions and concerns of your own. It is important to know that while your loved one’s life may change, and yours with it, you are not alone.
By educating yourself on ALSP symptoms, long-term effects, and potential treatments, you will have information to help your loved one and yourself deal with the daily impact of ALSP on your lives. The following websites have education on caregiving and caregiver support.