ALSP FAQs

What Causes ALSP?

ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on specific functions (differentiation).

I was recently diagnosed with ALSP. What treatment options do I have?

The only available treatment option at this time is a bone marrow transplant clinical trial.
Click the button below to see clinical trial research regarding bone marrow transplants in treatment of ALSP.

Click Here!

My doctor suspects my family has the ALSP gene mutation. Are there other diseases that may be causing my symptoms?

The main differential for ALSP is leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl-transfer RNA (tRNA) synthetase gene (AARS2-L). Additional causes of symptoms could be:

  • multiple sclerosis
  • cerebral vasculitis
  • CADASIL
  • Alzheimer disease
  • frontotemporal dementia
  • atypical parkinsonism
  • cortical basal degeneration

Your doctor will run all of the necessary tests to determine the cause of your symptoms. Genetic testing is available to confirm an ALSP diagnosis.

How many people are living with or diagnosed with ALSP?

ALSP is considered a rare disease, typically manifesting between ages 30 and 50 years. Its exact prevalence is unknown, as it has been previously mistaken for many other diseases and it might thus continue to be underdiagnosed.

Did someone in my family have the CSF1R mutation or am I the only one?

While ALSP is usually an inherited disease, there are case reports of proven de novo mutations and mutation carriers without clinical symptoms currently up to the age of over 70 years.

Typically, ALSP is caused by autosomal dominantly inherited mutations in the colony-stimulating factor 1 receptor (CSF1R) gene.

What does autosomal dominant mean?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

My loved one was recently diagnosed with ALSP. What symptoms can I expect over the course of this disease?

Patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) can have a wide variety of symptoms that usually exhibit a rapid progression and lead to death within a couple of years due to progressive motor impairment. Typical symptoms are:

  • apathy
  • depression
  • neuropsychiatric symptoms, progressing to dementia
  • apraxia and rarely ataxia
  • epilepsy
  • motor skills are affected which causes difficulty walking.
  • movement abnormalities known as parkinsonism, which includes:
  • unusually slow movement (bradykinesia)
  • involuntary trembling (tremor)
  • muscle stiffness (rigidity)
Does everyone diagnosed with ALSP have the same symptoms?

The pattern of cognitive and motor problems is variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves.

My Neurologist suspects I may have ALSP due to my symptoms and findings on my MRI. How can I confirm this diagnosis?

The mutations can be confirmed by genetic testing. Invitae offers a genetic testing and counseling. Please visit https://www.invitae.com/en/ for more information.

I have heard the diagnosis POLD, HDLS and ALSP. Which is correct?

ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause similar white matter damage and cognitive and movement problems.

POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids.

HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP.

Are there doctors who specialize in ALSP?

There are doctors who specialize in adult leukodystrophies including ALSP.

Refer to the page Physician Database to find a doctor close to you.

Physician Database

I really need help understanding and coping with this diagnosis. Are there support groups available for me and my family?

Yes. Sisters Hope Foundation provides support groups for patients, caregivers and families living with ALSP. 

Support Group

What can I do to help Sisters’ Hope Foundation?

We are always looking for volunteers and committee members. Monetary donations are appreciated, too.

Volunteer! | Donate!

What is the meaning and significance of the Sisters’ Hope foundation logo and ribbon?

The HDLS/ALSP Awareness ribbon represents Heather and Holly and their selfless fight to support research efforts and raise awareness to save their own children. Heather’s Hope purple and Holly’s Hope pink with zebra stripes to represent rare diseases. The sideways heart which is part of the Sisters’ Hope Foundation logo is a 3 to represent Three Sisters (Heather, Holly and Heidi).