A - 117 Neuropsychological Profile of CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rapidly progressive neurodegenerative disorder caused by mutations in the CSF1R gene and is characterized by white matter disease, seizures, motor and cognitive impairment, and personality change. However, the existing neuropsychological literature on ALSP is limited. This exploratory study describes the cognitive profile of patients diagnosed with CSF1R-related ALSP. 7 patients with genetically confirmed CSF1R-related ALSP (Mage = 43.71, SD = 1.6; Meducation = 15.71, SD = 1.89; 71% female; 100% white) underwent neuropsychological examination as part of a pre-bone-marrow transplant work-up. Patients completed tests assessing all standard cognitive domains. Given variability in tests between evaluations, domain means were calculated for each patient and used to calculate frequencies of poor (below average and exceptionally low range) cognitive performance by domain. Two patients were asymptomatic at the time of the evaluation and performed in the low average to exceptionally high range across domains. Of the remaining patients, the average time between symptom onset and the neuropsychological evaluation was 1.6years (SD = 0.55). Below average to exceptionally low range performances were most often observed in executive functioning (80%) and processing speed (80%) domains. 60% of symptomatic patients showed poor performances in attention, verbal skills, visual skills, and fine motor functioning domains. Consistent with prior research, results suggest primarily frontal and subcortical system dysfunction. Neuropsychologists may be uniquely qualified to aid in detecting subtle cognitive changes in ALSP patients that may be critical for early detection of symptoms and treatment planning. Future studies should evaluate these findings in large and more diverse samples.