AUTHOR=Papapetropoulos Spyros , Gelfand Jeffrey M. , Konno Takuya , Ikeuchi Takeshi , Pontius Angela , Meier Andreas , Foroutan Farid , Wszolek Zbigniew K. 

TITLE=Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies

JOURNAL=Frontiers in Neurology

VOLUME=Volume 15 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1320663

DOI=10.3389/fneur.2024.1320663

ISSN=1664-2295

ABSTRACT=Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease in which a rapid, accurate diagnosis is critical in providing supportive symptom management and allowing for early therapeutic intervention. The objective of this retrospective literature analysis was to leverage a comprehensive review of published case reports to examine misdiagnosis frequency among a cohort of patients with ALSP. To our knowledge, the findings of this analysis of published case reports represents the largest case series to date of patients with ALSP. Our analysis showed that initial misdiagnosis of ALSP was common, with an accurate initial diagnosis of ALSP achieved in only 72 of 291 cases (24.7%), and likely due to the overlap of ALSP symptoms with those of other disorders such as early-onset Alzheimer's disease, frontotemporal dementia, familial leukoencephalopathy, multiple sclerosis, and cerebrovascular diseases. Thus, despite the application of diagnostic criteria to distinguish ALSP from other disorders that present similarly and development of a genetic test for the CSF1R mutation, diagnosis of ALSP remains challenging and therefore the majority of cases are likely unrecognized. Increased awareness of ALSP and further investigation and characterization into its presenting symptoms are needed to improve diagnostic accuracy of this debilitating disorder.