References
- Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topcu M,Vanier MT, Widner H, Wijburg FA, Patterson M. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98:152–165.
- Wijburg FA, Sedel F, Pineda M. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560–1567.
- Quinn N. The “Round the Houses” sign in progressive supranuclear palsy. Ann Neurol 1996; 40:951.
- Chang KL, Hwu WL, Yeh HY, Lee NC, Chien YH. CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. Blood Cells Mol Dis 2010;44:38–40.
- Saito Y, Suzuki K, Nanba E, Yamamoto T, Ohno K, Murayama S. Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol 2002;52:351–355.
- Park WD, O`Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 2003;22:313–325.
- Patterson M, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765–772.
- Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal brainstem, and biochemical deficits. Neurology 2009;72;1083–1086.
- Rottach KG, Riley DE, DiScenna AO, Zivotofsky AZ, Leigh RJ. Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes. Ann Neurol. 1996 Mar;39(3);368–77.