Understanding Niemann-Pick Disease Type C

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Understanding Niemann–Pick disease type C and its potential treatment J. E. Wraith and J. Imrie © 2007 by Blackwell Publishing Blackwell Publishing, Inc., 350 Main Street, Malden, Massachusetts 02148-5020, USA Blackwell Publishing Ltd, 9600 Garsington Road, Oxford OX4 2DQ, UK Blackwell Publishing Asia Pty Ltd, 550 Swanston Street, Carlton, Victoria 3053, Australia ISBN: 978-1-4051-5702-5 Set in Franklin Gothic Medium Condensed by Sparks, Oxford -- www.sparks.co.uk Printed and bound in the UK by rpm print and design, Chichester </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">UnderstandingNiemann–Pickdisease type Cand its</a> UnderstandingNiemann–Pickdisease type Cand its<a title="Understanding Niemann-Pick Disease Type C page 4" href="http://viewer.zmags.com/publication/79b95aa2?page=4">© 2007 by Blackwell PublishingBlackwell Publishi</a> © 2007 by Blackwell PublishingBlackwell Publishi<a title="Understanding Niemann-Pick Disease Type C page 5" href="http://viewer.zmags.com/publication/79b95aa2?page=5">ContentsGlossary of Terms </a> ContentsGlossary of Terms <a title="Understanding Niemann-Pick Disease Type C page 6" href="http://viewer.zmags.com/publication/79b95aa2?page=6">Glossary of TermsTerm </a> Glossary of TermsTerm <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> Niemann–Pick Disease Type C: A Scientist's Perspe<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 ViewW</a> A Call to Action: The Patient Association ViewW<a title="Understanding Niemann-Pick Disease Type C page 9" href="http://viewer.zmags.com/publication/79b95aa2?page=9">Niemann–Pick Disease in SummaryNPC is an extrem</a> Niemann–Pick Disease in SummaryNPC is an extrem<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> History: Niemann–Pick Disease Types and Nomenclat<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> condition as it is biochemically and clinically i<a title="Understanding Niemann-Pick Disease Type C page 12" href="http://viewer.zmags.com/publication/79b95aa2?page=12">MutationsNPC1The NPC1 gene, mapped to chromosom</a> MutationsNPC1The NPC1 gene, mapped to chromosom<a title="Understanding Niemann-Pick Disease Type C page 13" href="http://viewer.zmags.com/publication/79b95aa2?page=13">Patterns of inheritanceNPC is inherited in an au</a> Patterns of inheritanceNPC is inherited in an au<a title="Understanding Niemann-Pick Disease Type C page 14" href="http://viewer.zmags.com/publication/79b95aa2?page=14">PathophysiologyNPC defects in lipid trafﬁcking</a> PathophysiologyNPC defects in lipid trafﬁcking<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> Figure 2. Cholesterol trafﬁcking defect in cultur<a title="Understanding Niemann-Pick Disease Type C page 16" href="http://viewer.zmags.com/publication/79b95aa2?page=16">NeuropathologyAt the gross level, the brain ofte</a> NeuropathologyAt the gross level, the brain ofte<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> Figure 4. Neuroﬁbrillary tangles in NPC (Reproduc<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> Figure 5. Alternative models for the role of NPC1<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> Analyses of genome-wide expression patterns have <a title="Understanding Niemann-Pick Disease Type C page 20" href="http://viewer.zmags.com/publication/79b95aa2?page=20">Clinical ManifestationsSigns and symptomsIn li</a> Clinical ManifestationsSigns and symptomsIn li<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> NPC and has been estimated to occur in 20–50% of <a title="Understanding Niemann-Pick Disease Type C page 22" href="http://viewer.zmags.com/publication/79b95aa2?page=22">PrognosisThe variability of NPC presentations pr</a> PrognosisThe variability of NPC presentations pr<a title="Understanding Niemann-Pick Disease Type C page 23" href="http://viewer.zmags.com/publication/79b95aa2?page=23">Diagnostic StrategiesAccurate diagnosis of NPC </a> Diagnostic StrategiesAccurate diagnosis of NPC <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> Filipin staining is employed to identify any ﬂuor<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> Figure 8. MRI and H-MRSI in control and NPC brain<a title="Understanding Niemann-Pick Disease Type C page 26" href="http://viewer.zmags.com/publication/79b95aa2?page=26">Evaluations following initial diagnosisPatients </a> Evaluations following initial diagnosisPatients <a title="Understanding Niemann-Pick Disease Type C page 27" href="http://viewer.zmags.com/publication/79b95aa2?page=27">Where to Refer: Specialist Care CentresGiven th</a> Where to Refer: Specialist Care CentresGiven th<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> medical specialists, as their child has complicat<a title="Understanding Niemann-Pick Disease Type C page 29" href="http://viewer.zmags.com/publication/79b95aa2?page=29">Healthcare SupportThe role of patient associati</a> Healthcare SupportThe role of patient associati<a title="Understanding Niemann-Pick Disease Type C page 30" href="http://viewer.zmags.com/publication/79b95aa2?page=30">Treatment Strategies in NPCThere is no deﬁnitiv</a> Treatment Strategies in NPCThere is no deﬁnitiv<a title="Understanding Niemann-Pick Disease Type C page 31" href="http://viewer.zmags.com/publication/79b95aa2?page=31">Cell-signalling targetsStudies have demonstrated</a> Cell-signalling targetsStudies have demonstrated<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> Table 6. Key parameters for establishing treatmen<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> supportive treatments. It is therefore vital to r<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> References 1.Patterson MC, Vanier MT, Suzuki<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> 27. Fernandez-Valero EM, Ballart A, Iturriaga C e<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> 49. Watari H, Blanchette-Mackie EJ, Dwyer NK et 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> 73. Sun X, Marks DL, Park WD et al. Niemann–Pick <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> 95. Mellon SH, Grifﬁn LD. Neurosteroids: bioc<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> ISBN: 978-1-4051-8269-0