Symptoms

body-symptoms

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Available Treatment

Symptoms often begin with mild psychological changes and eventually develop into loss of movement and overall function. Early signs of ALSP can be very hard to distinguish from other neurological disorders. These symptoms usually include poor judgement, depression, personality changes, and limited movement problems.1-3

As ALSP progresses, the disease can lead to mental decline, severe depression, apathy, anxiety, irritability, and dementia.

Advanced Symptoms

Other symptoms of advanced ALSP include problems sensing vibration, body position, touch, and pain. Some individuals may also have seizures.1-3

Because ALSP is a progressive disease, movement problems will usually develop over time and include parkinsonian tremor, rigidity, slow movements, and problems sitting or standing. While rare, some people with ALSP may develop stroke-like symptoms and problems with their bones or eyes. Final stages of ALSP include loss of speech and voluntary motor movement, development of a vegetative state and death. New experimental treatments may help slow or stop the disease.1-3

References
  1. Asadi S, Jamali M, Amjadi H. Assessment of genetic mutation CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia syndrome. CP Allergy Immunol. 2018;1(1):003.
  2. Sundal C, Wszolek ZK. CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. 2012 Aug 30 [Updated 2017 Oct 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100239/
  3. Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017;24(1):37-45.

Diagnosis

ALSP can progress quickly. Many of the initial symptoms can be misdiagnosed as other neurological disorders.

Symptoms of ALSP can overlap with other neurological conditions, and genetic testing for the CSF1R mutation can confirm an ALSP diagnosis.1-2 In addition to genetic testing, an MRI can verify lesions in the brain caused by the loss of myelin, a protective layer for brain cells, around neurons (brain cells). CT scans can detect other abnormal areas in the brain.

brain-scan

White spots on an MRI could mean damage to neurons and myelin (arrows). Larger spots may indicate a later stage of ALSP.

symptoms-chart
If you feel you need diagnosis or treatment for ALSP, you can find support here.
References
  1. Sundal C, Wszolek ZK. CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. 2012 Aug 30 [Updated 2017 Oct 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100239/
  2. Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017;24(1):37-45.
  3. Johns Hopkins Medicine. Primary Progressive Multiple Sclerosis. Accessed November 2, 2020. https://www.hopkinsmedicine.org/health/conditions-and-diseases/multiple-sclerosis-ms/primary-progressive-multiple-sclerosis
  4. Mayo Clinic. Parkinson’s Disease: Symptoms and Causes. Accessed November 2, 2020. https://www.mayoclinic.org/diseases-conditions/parkinsons-disease/symptoms-causes/syc-20376055
  5. Mayo Clinic. Frontotemporal Dementia: Symptoms and Causes. Accessed November 2, 2020. https://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/symptoms-causes/syc-20354737