{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T13:23:47Z","timestamp":1772803427758,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Niemann\u2013Pick type C disease is a fatal neurovisceral disorder linked to dysregulation in cholesterol processing. A medication for this disease is currently being tested in clinical trials. However, there is a lack of information on neuropsychological testing parameters for this disease. One aim of this pilot study was to evaluate a test battery that could be used to assess cognitive deficits in different stages of the disease. A second aim was to determine whether specific functional deficits are associated with certain disease stages. Eight men and two women (19\u201340 years of age) harbouring mutations in the gene coding for the cholesterol trafficking protein NPC1 were put through the same test battery independently of their disease stage. The external staging criterion was based on a five\u2010step clinical scale. Trail Making tests A &amp; B and verbal fluency were sensitive indicators at early stages of NPC. Corsi Block\u2010Tapping, Mini Mental Status, Find Similarities and Clock Drawing showed abnormal results in patients with advanced disease. The Grooved Pegboard, Trail Making and Mosaic tests were unsuitable in advanced disease due to impaired fine motor skills. We observed that visuospatial working memory was less affected by the neurodegenerative process than verbal working memory. The series of tests used here could be supplemented by the severe impairment battery and Raven matrices tests for patients with advanced disease.<\/jats:p>","DOI":"10.1007\/s10545-006-0417-6","type":"journal-article","created":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T08:38:32Z","timestamp":1165826312000},"page":"60-67","source":"Crossref","is-referenced-by-count":52,"title":["Neuropsychological profile of adult patients with Niemann\u2013Pick C1 (NPC1) mutations"],"prefix":"10.1002","volume":"30","author":[{"given":"B.","family":"Klarner","sequence":"first","affiliation":[{"name":"Institute for Psychogerontology University of Erlangen\u2010Nuremberg Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. H.","family":"Kl\u00fcnemann","sequence":"additional","affiliation":[{"name":"Department of Psychiatry University of Regensburg School of Medicine Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"L\u00fcrding","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Regensburg School of Medicine Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Aslanidis","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry University of Regensburg School of Medicine Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Rupprecht","sequence":"additional","affiliation":[{"name":"Institute for Psychogerontology University of Erlangen\u2010Nuremberg Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.20685"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.03.011"},{"key":"e_1_2_1_4_1","first-page":"461","article-title":"Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann\u2013Pick C","volume":"45","author":"Bascunan\u2010Castillo EC","year":"2004","journal-title":"J Appl Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000158422.41380.82"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5323.228"},{"key":"e_1_2_1_7_1","volume-title":"Neuropsychologische Testbatterie: Autorisierte Deut\u2010 sche Version","author":"CERAD","year":"1997"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509062102"},{"key":"e_1_2_1_9_1","volume-title":"Peabody Picture Vocabulary Test\u2010III (PPVT\u2010III)","author":"Dunn LM","year":"1997"},{"key":"e_1_2_1_10_1","volume-title":"Mini Mental Status Test","author":"Folstein MF","year":"1990"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601679200"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.12.2286"},{"key":"e_1_2_1_13_1","volume-title":"Poster presented at the American Society of Human Genetics conference","author":"Hinton V","year":"2005"},{"key":"e_1_2_1_14_1","volume-title":"Neuropsychological Assessment","author":"Lezak MD","year":"2004"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/302626"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.01.011"},{"key":"e_1_2_1_17_1","volume-title":"Poster presented at the American Society of Human Genetics conference","author":"Patterson M","year":"2005"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2004.08.013"},{"key":"e_1_2_1_19_1","volume-title":"Trail Making Test","author":"Reitan RM","year":"1979"},{"key":"e_1_2_1_20_1","volume-title":"Addendum to the Trail Making Test for Adults Manual for Administration","author":"Reitan RM","year":"2001"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.2466\/pms.1993.76.3c.1219"},{"key":"e_1_2_1_22_1","volume-title":"The Severe Impairment Battery","author":"Saxton J","year":"1993"},{"key":"e_1_2_1_23_1","volume-title":"Block\u2010Tapping\u2010Test. 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