Wider, Christian ; Zech, Michael ; Nübling, Georg ; Castrop, Florian ; Jochim, Angela 
; Schulte, Eva C. ; Mollenhauer, Brit ; Lichtner, Peter ; Peters, Annette ; Gieger, Christian ; Marquardt, Thorsten ; Vanier, Marie T. ; Latour, Philippe ; Klünemann, Hans ; Trenkwalder, Claudia ; Diehl-Schmid, Janine ; Perneczky, Robert ; Meitinger, Thomas ; Oexle, Konrad ; Haslinger, Bernhard ; Lorenzl, Stefan ; Winkelmann, Juliane
; Schulte, Eva C. ; Mollenhauer, Brit ; Lichtner, Peter ; Peters, Annette ; Gieger, Christian ; Marquardt, Thorsten ; Vanier, Marie T. ; Latour, Philippe ; Klünemann, Hans ; Trenkwalder, Claudia ; Diehl-Schmid, Janine ; Perneczky, Robert ; Meitinger, Thomas ; Oexle, Konrad ; Haslinger, Bernhard ; Lorenzl, Stefan ; Winkelmann, Juliane 
Abstract
Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal ...
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