Objective: The aim of this study is to describe the movement disorder phenotypes within a cohort of individuals with Leukoencephalopthy with Calcifications and Cysts.

Background: Leukoencephalopathy with Calcifications and Cysts (LCC, also known as Labrune Syndrome) is a neurodegenerative disorder caused by biallelic pathogenic variants in SNORD118. Age of presentation can vary across the lifespan. White matter changes, calcifications, and subsequent space-occupying cyst formation are the classic imaging features of LCC. Neurologic symptoms include pyramidal weakness, spasticity, epilepsy, cognitive disability, and mood dysregulation. Movement disorders are a common yet under-reported feature of LCC. Specific movement disorder phenotypes in LCC have not been well characterized.

Method: Patients were recruited from a cohort of LCC patients who consented to collection of natural history data, MRI studies, and video analysis. Evaluations occurred via in-person assessments by a pediatric movement disorders neurologist. Rating scales to assess for dystonia, ataxia, and parkinsonism were completed based on in person assessment and video review.

Results: Nine patients from eight families were included in this study. Three patients were unable to participate in some of the scales due to age or cognitive ability. All patients had evidence of at least one movement disorder, with 2/9 (22%) displaying 2 distinct movement disorders and 5/9 (56%) displaying evidence of 3 distinct movement disorders. Dystonia was the most common movement disorder, present in 7/9 patients (78%) although of varying severity (BADS range 2-14, BFM range 3-44). Clinically relevant ataxia (4/9, 44%), tremor (1/9, 11%), and parkinsonism (2/9, 22%) were also present.

Conclusion: Movement disorders are common neurologic features of LCC but vary in presentation and severity. Physical and cognitive ability was a limiting factor in the assessment of movement disorder phenotypes, but most individuals were able to participate fully in the assessments. The majority of subjects in our cohort exhibit signs of multiple movement disorders. Genotype was not predictive of movement disorder phenotype.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorder-presentations-in-leukoenephalopathy-with-calcifications-and-cysts/