NEXT EPNS FREE Case Discussion 60 minute webinar

The Young EPNS is delighted to offer FREE 1 hour webinars on alternate 4th Wednesday of each month at 17:00h Belgium time. Each webinar is broadcast live on Zoom and available for FREE to anyone who would like to register.

Wednesday 27 September 17:00h Belgium time

Complex movement disorders in atypical CLN2 disease

Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) is a rare lysosomal storage disease caused by a deficiency in TPP1 enzyme activity. Lack of disease awareness and the non-specificity of presenting symptoms often contribute to delayed diagnosis. We report a late-onset case of atypical CLN2 disease from West Africa, presenting with a complex movement disorder phenotype in the absence of epilepsy and other classical CLN2 features. We highlight the importance of recognising movement disorders in CLN2 disease, their potentially significant disease burden, and pharmacological treatment challenges. As we improve our understanding of the spectrum of movement disorders associated with CLN2 disease, regular assessment and treatment of movement disorders, especially in atypical forms, should be encouraged.

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