Zbigniew Wszolek, MD, Mayo Clinic, Jacksonville, FL, introduces adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ALSP is a rare, progressive neurological disorder caused by mutations in the CSF1R gene. There are only around 500 diagnosed cases in the world, but it is thought that the condition is under-diagnosed; Prof. Wszolek estimates that the real numbers are around 20-30,000. The condition generally affects people in mid-life and leads to incapacitation in 2-3 years and death in 6-7 years. The pathological hallmarks of ALSP are axonal spheroids (focal swellings of axons filled with neurofilament) and pigmented glia. Atrophy of corpus callosum and punctate calcifications in the brain are also characteristic of ALSP. Misdiagnosis is common as patients present with many symptoms that are characteristic of more common diseases — cognitive problems, dementia, psychiatric problems, motor symptoms, and white matter changes. Alzheimer’s disease, atypical Parkinsonian disorders, and multiple sclerosis are common misdiagnoses. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.
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