{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:07:05Z","timestamp":1790269625792,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,3,22]],"date-time":"2002-03-22T00:00:00Z","timestamp":1016755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report here a unique case of a 55\u2010year\u2010old woman presenting with a clinical picture of Parkinson disease, severe back pain, splenomegaly, and pronounced dyspnea. Radiographic examination of the spine showed multiple vertebral fractures. Niemann\u2010Pick disease type B was diagnosed by findings of lipid\u2010loaded histiocytes and a strongly reduced sphingomyelinase enzyme activity. She was homozygous for the deletion of codon 608 (delR608), which encodes an arginine residue in the Acid Sphingomyelinase gene. To investigate the cause of the unusual vertebral fractures, we screened for polymorphisms previously described as possibly associated with increased risk for osteoporosis and fractures. Our patient was heterozygous for the polymorphisms of the vitamin D receptor gene, the estrogen receptor gene, and the collagen 1A1gene. Increased physical activity after Parkinson treatment, a genetic predisposition, together with worsening disease due to interfering medications could explain the dramatic presentation of this patient. She was treated with cholesterol lowering drugs such as statins to decrease sphingomyelin synthesis, avoidance of drugs that inhibit sphingomyelinase, and bisphosphonates. No new fractures have occurred, but the interstitial lung disease has progressed. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10278","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:15:07Z","timestamp":1030317307000},"page":"42-51","source":"Crossref","is-referenced-by-count":27,"title":["Niemann\u2010Pick disease type B: An unusual clinical presentation with multiple vertebral fractures*"],"prefix":"10.1002","volume":"109","author":[{"given":"P.","family":"Volders","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Van Hove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.U.","family":"Lories","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ph.","family":"Vandekerckhove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Matthijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"De Vos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.T.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.F.","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Westhovens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.P.","family":"Luyten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,3,22]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_6_3_1","first-page":"657","volume-title":"Bailli\u00e8re's clinical haematology, Gaucher's disease","author":"Cox TM","year":"1997"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-199907000-00013"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199611000-00023"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197509252931304"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1093\/jn\/125.9.2294","article-title":"Cholesterol consumption alters hepatic sphingomyelin metabolism in rats","volume":"125","author":"Geelen MJ","year":"1995","journal-title":"J Nutr"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-203"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4889(94)00219-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002239900586"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115380"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(90)90211-F"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0014com"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19971015)80:8 <1652::AID-CNCR15>3.0.CO;2-Z"},{"key":"e_1_2_6_15_1","first-page":"3589","volume-title":"The metabolic and molecular bases of inherited disease","author":"Schuchman EH","year":"2001"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90366-Z"},{"key":"e_1_2_6_17_1","first-page":"1655","volume-title":"The metabolic basis of inherited disease","author":"Spence MW","year":"1989"},{"key":"e_1_2_6_18_1","doi-asserted-by":"crossref","first-page":"12552","DOI":"10.1016\/S0021-9258(18)42312-5","article-title":"Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann\u2010Pick disease. 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