Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome
The Smith‐Lemli‐Opitz syndrome is a genetic disorder characterized by typical clinical features including reduced myelination of both brain and peripheral nervous system and defective cholesterol biosynthesis. In patients this results in very low cholesterol concentrations and accumulation of choles...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1997-08, Vol.20 (4), p.578-580 |
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| container_end_page | 580 |
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| container_issue | 4 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 20 |
| creator | Rooij, A. Nijenhuis, A. A. Wijburg, F. A. Schutgens, R. B. H. |
| description | The Smith‐Lemli‐Opitz syndrome is a genetic disorder characterized by typical clinical features including reduced myelination of both brain and peripheral nervous system and defective cholesterol biosynthesis. In patients this results in very low cholesterol concentrations and accumulation of cholesterol precursors in plasma, tissues, cultured cells and faeces. We now show that the cholesterol concentration in CSF of Smith‐Lemli‐Opitz patients is markedly decreased and that 7‐ and 8‐dehydrocholesterol concentrations are highly increased in comparison to controls. Moreover, dietary treatment of patients with cholesterol seems not to affect CSF cholesterol concentration. |
| doi_str_mv | 10.1023/A:1005355026186 |
| format | Article |
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A.</creatorcontrib><creatorcontrib>Wijburg, F. A.</creatorcontrib><creatorcontrib>Schutgens, R. B. H.</creatorcontrib><title>Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>The Smith‐Lemli‐Opitz syndrome is a genetic disorder characterized by typical clinical features including reduced myelination of both brain and peripheral nervous system and defective cholesterol biosynthesis. In patients this results in very low cholesterol concentrations and accumulation of cholesterol precursors in plasma, tissues, cultured cells and faeces. We now show that the cholesterol concentration in CSF of Smith‐Lemli‐Opitz patients is markedly decreased and that 7‐ and 8‐dehydrocholesterol concentrations are highly increased in comparison to controls. Moreover, dietary treatment of patients with cholesterol seems not to affect CSF cholesterol concentration.</description><subject>Biological and medical sciences</subject><subject>Cholestadienols - cerebrospinal fluid</subject><subject>Cholesterol - cerebrospinal fluid</subject><subject>Chromatography, Gas</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dehydrocholesterols - cerebrospinal fluid</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Smith-Lemli-Opitz Syndrome - cerebrospinal fluid</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkL1u2zAUhYkiQeIknTsV0BB0U0OKP6KyGW6cOHDhwelMUNRlzYASHVJGoEx9hD5jnqQKbATolOkO5zvnHhyEvhD8neCCXk2vCcacco4LQaT4hCaElzQvhOBHaIIJI7msOD9FZyk9YowryfkJOqlGgFZ8gtSd-73xQ-Y6E0EnaLLZep6Z0Bno-qh7F7qUBZuZTfCQeojBZ9sIZhdTiGm0ZevW9ZvXP3-X0Ho33tXW9S9ZGromhhYu0LHVPsHnwz1Hv-Y3D7O7fLm6Xcymy9xQUcrcFpTKWlhpayatoKVoKKes0nWFKRd1iaGuwHAgtqbcWqaZMYTWTcGAgpD0HH3b525jeNqNTVXrkgHvdQdhl1RZFYUsCRnBqz1oYkgpglXb6FodB0WweptUTdV_k46Or4foXd1C884fNhz1y4Ouk9HeRt0Zl96xomRMsLeGfI89Ow_DR1_V_eLnD8xLSf8B7DyQSw</recordid><startdate>199708</startdate><enddate>199708</enddate><creator>Rooij, A.</creator><creator>Nijenhuis, A. 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Prion diseases</topic><topic>Dehydrocholesterols - cerebrospinal fluid</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>Smith-Lemli-Opitz Syndrome - cerebrospinal fluid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rooij, A.</creatorcontrib><creatorcontrib>Nijenhuis, A. A.</creatorcontrib><creatorcontrib>Wijburg, F. A.</creatorcontrib><creatorcontrib>Schutgens, R. B. 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H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1997-08</date><risdate>1997</risdate><volume>20</volume><issue>4</issue><spage>578</spage><epage>580</epage><pages>578-580</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>The Smith‐Lemli‐Opitz syndrome is a genetic disorder characterized by typical clinical features including reduced myelination of both brain and peripheral nervous system and defective cholesterol biosynthesis. In patients this results in very low cholesterol concentrations and accumulation of cholesterol precursors in plasma, tissues, cultured cells and faeces. We now show that the cholesterol concentration in CSF of Smith‐Lemli‐Opitz patients is markedly decreased and that 7‐ and 8‐dehydrocholesterol concentrations are highly increased in comparison to controls. Moreover, dietary treatment of patients with cholesterol seems not to affect CSF cholesterol concentration.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>9266395</pmid><doi>10.1023/A:1005355026186</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1997-08, Vol.20 (4), p.578-580 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Wiley Online Library All Journals; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Cholestadienols - cerebrospinal fluid Cholesterol - cerebrospinal fluid Chromatography, Gas Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dehydrocholesterols - cerebrospinal fluid Female Humans Infant Infant, Newborn Male Medical sciences Neurology Smith-Lemli-Opitz Syndrome - cerebrospinal fluid |
| title | Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome |
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