Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
ALSP is a rare genetic, neurological condition largely due to damage to myelinated axons. Neurological signs and symptoms seen in people with this condition include personality changes, loss of memory, changes in motor skills and dementia. ALSP is caused by genetic changes in the CSF1R gene.
Ms. Sullivan’s grandmother was the first in her family to present with cognitive symptoms of ALSP. However, it took 30 years for her family to get an accurate diagnosis. In that time, both her aunt and mother also began showing signs, with their symptoms presenting as behavioral, such as anxiety and depression, and motor dysfunction, respectively. After many misdiagnoses between the three family members, such as multiple sclerosis and early-onset Alzheimer’s, an ALSP diagnosis was made after a physician ordered genetic testing on Ms. Sullivan’s mother.
This story is not unique in the diagnostic journey of many patients with ALSP since the symptoms often present as more common conditions and vary greatly amongst patients. This, and the necessity for early treatment intervention, are why genetic testing is so important.
In the ALSP community treatment options are limited, with no therapies currently available that target the underlying cause of disease. Treatments that are available focus on controlling symptoms like anxiety, depression, and seizures. However, most of these treatments are not very effective in this patient population.
Ongoing research includes the phase 2 Ignite clinical trial testing iluzanebart for the treatment of patients with ALSP.
For more information on rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/