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<br /> <br /> <br /> Understanding<br /> Niemann–Pick<br /> disease type C<br /> and its potential<br /> treatment<br /> J. E. Wraith and J. Imrie<br /> © 2007 by Blackwell Publishing<br /> Blackwell Publishing, Inc., 350 Main Street, Malden, Massachusetts 02148-5020, USA<br /> Blackwell Publishing Ltd, 9600 Garsington Road, Oxford OX4 2DQ, UK<br /> Blackwell Publishing Asia Pty Ltd, 550 Swanston Street, Carlton, Victoria 3053, Australia<br /> ISBN: 978-1-4051-5702-5<br /> Set in Franklin Gothic Medium Condensed by Sparks, Oxford -- www.sparks.co.uk<br /> Printed and bound in the UK by rpm print and design, Chichester<br /> This publication has been made available through an educational grant from Actelion Pharmaceuticals Ltd<br /> Contents<br /> Glossary of Terms 4<br /> Niemann–Pick Disease Type C: A Scientist's Perspective <a title="Understanding Niemann-Pick Disease Type C page 1" href="http://viewer.zmags.com/publication/79b95aa2?page=1"> </a> <a title="Understanding Niemann-Pick Disease Type C page 2" href="http://viewer.zmags.com/publication/79b95aa2?page=2"> </a> <a title="Understanding Niemann-Pick Disease Type C page 3" href="http://viewer.zmags.com/publication/79b95aa2?page=3"> Understanding Niemann–Pick disease type C and its</a> <a title="Understanding Niemann-Pick Disease Type C page 4" href="http://viewer.zmags.com/publication/79b95aa2?page=4"> © 2007 by Blackwell Publishing Blackwell Publishi</a> <a title="Understanding Niemann-Pick Disease Type C page 5" href="http://viewer.zmags.com/publication/79b95aa2?page=5"> Contents Glossary of Terms </a> <a title="Understanding Niemann-Pick Disease Type C page 6" href="http://viewer.zmags.com/publication/79b95aa2?page=6"> Glossary of Terms Term </a> <a title="Understanding Niemann-Pick Disease Type C page 7" href="http://viewer.zmags.com/publication/79b95aa2?page=7"> Niemann–Pick Disease Type C: A Scientist's Perspe</a> <a title="Understanding Niemann-Pick Disease Type C page 8" href="http://viewer.zmags.com/publication/79b95aa2?page=8"> A Call to Action: The Patient Association View W</a> <a title="Understanding Niemann-Pick Disease Type C page 9" href="http://viewer.zmags.com/publication/79b95aa2?page=9"> Niemann–Pick Disease in Summary NPC is an extrem</a> <a title="Understanding Niemann-Pick Disease Type C page 10" href="http://viewer.zmags.com/publication/79b95aa2?page=10"> History: Niemann–Pick Disease Types and Nomenclat</a> <a title="Understanding Niemann-Pick Disease Type C page 11" href="http://viewer.zmags.com/publication/79b95aa2?page=11"> condition as it is biochemically and clinically i</a> <a title="Understanding Niemann-Pick Disease Type C page 12" href="http://viewer.zmags.com/publication/79b95aa2?page=12"> Mutations NPC1 The NPC1 gene, mapped to chromosom</a> <a title="Understanding Niemann-Pick Disease Type C page 13" href="http://viewer.zmags.com/publication/79b95aa2?page=13"> Patterns of inheritance NPC is inherited in an au</a> <a title="Understanding Niemann-Pick Disease Type C page 14" href="http://viewer.zmags.com/publication/79b95aa2?page=14"> Pathophysiology NPC defects in lipid trafficking </a> <a title="Understanding Niemann-Pick Disease Type C page 15" href="http://viewer.zmags.com/publication/79b95aa2?page=15"> Figure 2. Cholesterol trafficking defect in cultur</a> <a title="Understanding Niemann-Pick Disease Type C page 16" href="http://viewer.zmags.com/publication/79b95aa2?page=16"> Neuropathology At the gross level, the brain ofte</a> <a title="Understanding Niemann-Pick Disease Type C page 17" href="http://viewer.zmags.com/publication/79b95aa2?page=17"> Figure 4. Neurofibrillary tangles in NPC (Reproduc</a> <a title="Understanding Niemann-Pick Disease Type C page 18" href="http://viewer.zmags.com/publication/79b95aa2?page=18"> Figure 5. Alternative models for the role of NPC1</a> <a title="Understanding Niemann-Pick Disease Type C page 19" href="http://viewer.zmags.com/publication/79b95aa2?page=19"> Analyses of genome-wide expression patterns have </a> <a title="Understanding Niemann-Pick Disease Type C page 20" href="http://viewer.zmags.com/publication/79b95aa2?page=20"> Clinical Manifestations Signs and symptoms In li</a> <a title="Understanding Niemann-Pick Disease Type C page 21" href="http://viewer.zmags.com/publication/79b95aa2?page=21"> NPC and has been estimated to occur in 20–50% of </a> <a title="Understanding Niemann-Pick Disease Type C page 22" href="http://viewer.zmags.com/publication/79b95aa2?page=22"> Prognosis The variability of NPC presentations pr</a> <a title="Understanding Niemann-Pick Disease Type C page 23" href="http://viewer.zmags.com/publication/79b95aa2?page=23"> Diagnostic Strategies Accurate diagnosis of NPC </a> <a title="Understanding Niemann-Pick Disease Type C page 24" href="http://viewer.zmags.com/publication/79b95aa2?page=24"> Filipin staining is employed to identify any fluor</a> <a title="Understanding Niemann-Pick Disease Type C page 25" href="http://viewer.zmags.com/publication/79b95aa2?page=25"> Figure 8. MRI and H-MRSI in control and NPC brain</a> <a title="Understanding Niemann-Pick Disease Type C page 26" href="http://viewer.zmags.com/publication/79b95aa2?page=26"> Evaluations following initial diagnosis Patients </a> <a title="Understanding Niemann-Pick Disease Type C page 27" href="http://viewer.zmags.com/publication/79b95aa2?page=27"> Where to Refer: Specialist Care Centres Given th</a> <a title="Understanding Niemann-Pick Disease Type C page 28" href="http://viewer.zmags.com/publication/79b95aa2?page=28"> medical specialists, as their child has complicat</a> <a title="Understanding Niemann-Pick Disease Type C page 29" href="http://viewer.zmags.com/publication/79b95aa2?page=29"> Healthcare Support The role of patient associati</a> <a title="Understanding Niemann-Pick Disease Type C page 30" href="http://viewer.zmags.com/publication/79b95aa2?page=30"> Treatment Strategies in NPC There is no definitiv</a> <a title="Understanding Niemann-Pick Disease Type C page 31" href="http://viewer.zmags.com/publication/79b95aa2?page=31"> Cell-signalling targets Studies have demonstrated</a> <a title="Understanding Niemann-Pick Disease Type C page 32" href="http://viewer.zmags.com/publication/79b95aa2?page=32"> Table 6. Key parameters for establishing treatmen</a> <a title="Understanding Niemann-Pick Disease Type C page 33" href="http://viewer.zmags.com/publication/79b95aa2?page=33"> supportive treatments. It is therefore vital to r</a> <a title="Understanding Niemann-Pick Disease Type C page 34" href="http://viewer.zmags.com/publication/79b95aa2?page=34"> References 1.Patterson MC, Vanier MT, Suzuki</a> <a title="Understanding Niemann-Pick Disease Type C page 35" href="http://viewer.zmags.com/publication/79b95aa2?page=35"> 27. Fernandez-Valero EM, Ballart A, Iturriaga C e</a> <a title="Understanding Niemann-Pick Disease Type C page 36" href="http://viewer.zmags.com/publication/79b95aa2?page=36"> 49. Watari H, Blanchette-Mackie EJ, Dwyer NK et a</a> <a title="Understanding Niemann-Pick Disease Type C page 37" href="http://viewer.zmags.com/publication/79b95aa2?page=37"> 73. Sun X, Marks DL, Park WD et al. Niemann–Pick </a> <a title="Understanding Niemann-Pick Disease Type C page 38" href="http://viewer.zmags.com/publication/79b95aa2?page=38"> 95. Mellon SH, Griffin LD. Neurosteroids: bioc</a> <a title="Understanding Niemann-Pick Disease Type C page 39" href="http://viewer.zmags.com/publication/79b95aa2?page=39"> ISBN: 978-1-4051-8269-0</a>