Title |
Atypical multisensory integration in Niemann-Pick type C disease – towards potential biomarkers
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, September 2014
|
DOI | 10.1186/s13023-014-0149-x |
Pubmed ID | |
Authors |
Gizely N Andrade, Sophie Molholm, John S Butler, Alice B Brandwein, Steven U Walkley, John J Foxe |
Abstract |
Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport mechanisms. It is characterized by progressive and ultimately terminal neurological disease, but both pre-clinical studies and direct human trials are underway to test the safety and efficacy of cholesterol clearing compounds, with good success already observed in animal models. Key to assessing the effectiveness of interventions in patients, however, is the development of objective neurobiological outcome measures. Multisensory integration mechanisms present as an excellent candidate since they necessarily rely on the fidelity of long-range neural connections between the respective sensory cortices (e.g. the auditory and visual systems). |
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