{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:18:23Z","timestamp":1777288703575,"version":"3.51.4"},"reference-count":39,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.ymgme.2012.11.009","type":"journal-article","created":{"date-parts":[[2012,11,28]],"date-time":"2012-11-28T19:45:50Z","timestamp":1354131950000},"page":"85-89","source":"Crossref","is-referenced-by-count":26,"title":["Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C"],"prefix":"10.1016","volume":"108","author":[{"given":"Mark","family":"Walterfang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry A.","family":"Abel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Desmond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael C.","family":"Fahey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Bowman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis","family":"Velakoulis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.11.009_bb0005","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","article-title":"Niemann-Pick disease type C","volume":"64","author":"Vanier","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0010","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3611","article-title":"Niemann-Pick Disease Type C: A Lipid Trafficking Disorder","author":"Patterson","year":"2001"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0015","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1176\/appi.neuropsych.18.2.158","article-title":"The neuropsychiatry of Niemann-Pick type C disease in adulthood","volume":"18","author":"Walterfang","year":"2006","journal-title":"J. Neuropsychiatry Clin. Neurosci."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0020","series-title":"Kaplan and Sadock's Comprehensive Textbook of Psychiatry","first-page":"592","article-title":"The neuropsychiatry of neuroendocrine and neurometabolic disorders","author":"Walterfang","year":"2009"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0025","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.bbalip.2004.08.011","article-title":"Consequences of NPC1 and NPC2 loss of function in mammalian neurons","volume":"1685","author":"Walkley","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0030","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/nm.1876","article-title":"Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium","volume":"14","author":"Lloyd-Evans","year":"2008","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0035","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/BF00318566","article-title":"Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease","volume":"90","author":"Auer","year":"1995","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0040","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.bbalip.2004.08.012","article-title":"Before the loss: neuronal dysfunction in Niemann-Pick type C disease","volume":"1685","author":"Paul","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0045","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/S0387-7604(01)00252-2","article-title":"Site and temporal changes of gangliosides GM1\/GM2 storage in the Niemann-Pick disease type C mouse brain","volume":"23","author":"Taniguchi","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0050","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/cne.1149","article-title":"Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease","volume":"433","author":"German","year":"2001","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0055","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/jnen\/60.1.49","article-title":"Neurons in Niemann-Pick type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations","volume":"60","author":"Zervas","year":"2001","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0060","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00227765","article-title":"Cerebellar degeneration in the Niemann-Pick type C mouse","volume":"85","author":"Higashi","year":"1993","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0065","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1093\/hmg\/ddp552","article-title":"Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration","volume":"19","author":"Elrick","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0070","first-page":"81","article-title":"Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease","volume":"1","author":"Ko","year":"2005","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0075","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ymgme.2004.08.017","article-title":"Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease","volume":"84","author":"Wu","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0080","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1007\/s004010050689","article-title":"GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C","volume":"94","author":"March","year":"1997","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0085","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1046\/j.1471-4159.1994.62051852.x","article-title":"Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside","volume":"62","author":"Siegel","year":"1994","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0090","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0022-510X(91)90208-O","article-title":"Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement","volume":"104","author":"Walkley","year":"1991","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0095","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1006\/nbdi.2002.0551","article-title":"Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles","volume":"11","author":"Bu","year":"2002","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0100","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/BF00599187","article-title":"Hypoplasia of the corpus callosum in Niemann-Pick type C disease","volume":"36","author":"Palmeri","year":"1994","journal-title":"Neuroradiology"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0105","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1093\/brain\/awl260","article-title":"The adult form of Niemann-Pick disease type C","volume":"130","author":"Sevin","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0110","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ymgme.2011.02.013","article-title":"In vivo quantification of brain injury in adult Niemann-Pick Disease Type C","volume":"103","author":"Zaaraoui","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0115","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1212\/WNL.0b013e3181e6210e","article-title":"White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study","volume":"75","author":"Walterfang","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0120","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","article-title":"Niemann-Pick C disease in Spain: Clinical spectrum and development of a disability scale","volume":"249","author":"Iturriaga","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0125","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1002\/mds.22681","article-title":"Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS","volume":"24","author":"Schmahmann","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0130","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0896-6273(02)00569-X","article-title":"Whole brain segmentation: automated labeling of neuroanatomical structures in the human brain","volume":"33","author":"Fischl","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0135","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1212\/01.wnl.0000345040.01917.9d","article-title":"Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem and biochemical deficits","volume":"72","author":"Abel","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0140","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.ymthe.2005.01.011","article-title":"AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease","volume":"11","author":"Passini","year":"2005","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0145","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.3174\/ajnr.A2490","article-title":"Size and shape of the corpus callosum in adult niemann-pick type C reflects state and trait illness variables","volume":"32","author":"Walterfang","year":"2011","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"3","key":"10.1016\/j.ymgme.2012.11.009_bb0150","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1111\/j.1468-1331.2011.03545.x","article-title":"Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C","volume":"19","author":"Walterfang","year":"2011","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0155","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1176\/appi.neuropsych.16.3.367","article-title":"Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome","volume":"16","author":"Schmahmann","year":"2004","journal-title":"J. Neuropsychiatry Clin. Neurosci."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0160","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0304-3940(02)00517-7","article-title":"Relationship between brain structure and saccadic eye movements in healthy humans","volume":"328","author":"Ettinger","year":"2002","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0165","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1152\/jn.1998.80.4.1911","article-title":"Effects of lesions of the oculomotor vermis on eye movements in primate: Saccades","volume":"80","author":"Takagi","year":"1998","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0170","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jnnp.58.1.91","article-title":"Horizontal eye movement disorders after posterior vermis infarctions","volume":"58","author":"Vahedi","year":"1995","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"11","key":"10.1016\/j.ymgme.2012.11.009_bb0175","doi-asserted-by":"crossref","first-page":"e50947","DOI":"10.1371\/journal.pone.0050947","article-title":"Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures","volume":"7","author":"Abel","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0180","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0306-4522(01)00517-6","article-title":"Neurodegeneration in the Niemann-Pick C mouse: glial involvement","volume":"109","author":"German","year":"2002","journal-title":"Neuroscience"},{"key":"10.1016\/j.ymgme.2012.11.009_bb0185","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/(SICI)1097-4547(19970801)49:3<389::AID-JNR14>3.0.CO;2-V","article-title":"Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice","volume":"49","author":"Goodrum","year":"1997","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0190","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1007\/BF00687215","article-title":"Dysmyelination in NCTR-Balb\/C mouse mutant with a lysosomal storage disorder: morphological survey","volume":"74","author":"Weintraub","year":"1987","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2012.11.009_bb0195","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1093\/jnen\/63.6.660","article-title":"Perturbed myelination process of premyelinationg oligodendrocyte in Niemann-Pick type C mouse","volume":"63","author":"Takikita","year":"2004","journal-title":"J. Neuropathol. Exp. Neurol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212004386?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212004386?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T05:19:18Z","timestamp":1562390358000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212004386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S1096719212004386"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.11.009","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]}}}