ALSP 101

Sisters’ Hope Foundation would like to thank https://www.alspinfo.com/ for their research and for being the source of the information below.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurological disease caused by an autosomal dominant genetic mutation in the CSF1R gene (colony-stimulating factor 1 receptor).

ALSP was previously known as two diseases: hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). After the discovery of the gene mutation, these two diseases have become known as one entity: ALSP.

ALSP is one of a group of adult-onset leukodystrophy disorders. Because it is a rare disease, the actual number of cases are unknown.