Objective: To describe a case of Parkinsonism due to ALSP which is responsive to carbidopa/levodopa

Background: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) is a rapidly progressive white matter degenerative disease caused by mutations in the CSF1R gene manifesting as bradykinetic gait, tremor, cognitive impairment, and behavioral changes. Previously described cases of parkinsonism due to ALSP did not respond to carbidopa/levodopa and consequently dopamine supplementation has not been attempted in recent cases. We describe a case of parkinsonism due to ALSP with marked improvement in motor and mental scores following treatment with carbidopa/levodopa.

Method: 54-year-old woman with one year history of progressive postural instability prohibiting gait, bradykinesia, rigidity, tremor, orthostasis, constipation, depression, and seizures. Neuropsychological testing revealed cognitive impairment and behavioral disinhibition. Initial MRI brain w/wo revealed white matter degeneration; interval repeat MRI brain w/wo demonstrated progression of white matter degeneration. DaT scan revealed decreased dopaminergic neuron density in basal ganglia (R>L). Maternal family history significant for multiple individuals with progressive loss of motor skills, gait difficulties, and cognitive impairment leading to early death in the third and fourth decades of life. Genetic testing confirmed CSF1R mutation. On examination she demonstrated rigidity (L>R) with dystonia, diffuse hyperreflexia, bradykinesia, resting tremor, hypometric saccades, hypophonia, and bradyphrenia. Initial MDS-UPDRS score was 76. Medication trail was performed in clinic with carbidopa/levodopa 50/200. Pre- and post-medication exams were filmed. Carbidopa/levodopa were continued to follow-up.

Results: Immediate improvement following carbidopa/levodopa in postural stability allowing gait, rigidity, dystonia, bradykinesia, tremor, hypophonia, and bradyphrenia. On-medication MDS-UPDRS score 53 at follow-up representing 30% improvement.

Conclusion: Carbidopa/levodopa should be considered as a therapeutic option in treatment of parkinsonism due to ALSP which may yield significant improvements in functional ability.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/parkinsonism-due-to-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-responsive-to-carbidopa-levodopa/