What we do
About our project
Background information
Neurologic and neurocognitive symptoms of lysosomal storage disorders put a considerable burden patients, their families and caregivers. Enzyme replacement therapy (ERT) cannot treat these symptoms as the enzymes cannot pass the blood-brain-barrier. Recently, innovative treatments have been developed aiming at the central and peripheral nervous systems. For the purpose of better counseling and clinical care in the light of the upcoming therapies, we need insight in the occurrence and course of the neurological complications of lysosomal storage disorders.
Overall aim
- To characterize the occurrence and the extent of clinical, radiological and neurophysiological features of neuronal involvement in lysosomal storage disorders.
- To describe the course of these neurologic symptoms.
Research method
- To study central nervous system involvement, we will perform brain MRI and neuropsychological testing.
- To study peripheral neurological symptoms, we will perform several diagnostic modalities such as EMGs and MRIs.
Desirable outcome
We expect that our results will greatly enhance our understanding of lysosomal storage disorders. This will enable to optimize counseling and clinical care of patients, their families and caregivers. Such understanding may alter future research directions and have important implications for the development and assessment of new therapeutic strategies.
Collaborations
Collaboration outside of Erasmus MC
Publications
Cognitive decline in classic infantile Pompe disease – an underacknowledged challenge.
Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM. (2016). Neurology. 2016 Mar 29;86(13):1260-1.
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT. (2016). J Inherit Metab Dis. 2016 Mar;39(2):285-92.
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.
Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT. (2012). Neurology. 2012 May 8;78(19):1512-8.
