{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:24:52Z","timestamp":1771262692642,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[1999,12,1]],"date-time":"1999-12-01T00:00:00Z","timestamp":944006400000},"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":[[1999,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), a genetically determined deficiency of ornithine {3}d\u2010aminotransferase activity leads to high ornithine concentrations in body fluids. GA is characterized by centripetally progressing retinal and choroidal destruction and selective atrophy with tubular aggregates in type II skeletal muscle fibres. These findings have been suggested to be mediated by hyperornithinaemia\u2010induced deficiency of high\u2010energy creatine phosphate. As abnormal brain magnetic resonance images and electroencephalograms are found in another disorder of creatine metabolism, guanidinoacetate methyltransferase deficiency, we investigated the central nervous system involvement in GA, which seems to be associated with a milder degree of phosphocreatine deficiency. We compared 23 untreated GA patients with age\u2010matched healthy controls, and with 9 patients who had received creatine or creatine precursor supplementation daily for several years. The mean age of the patients (32\u00b118 years) was similar to that of the controls (36\u00b122 years). The MRI or EEG findings of the patients on creatine supplementation did not differ from those of the untreated group. Brain MRI revealed degenerative lesions in the white matter in 50% of the GA patients, and 70% of the patients had premature atrophic changes, with a striking increase in the number of Virchow's spaces. Of the patients whose EEG was recorded, 58% had abnormal slow background activity, focal lesions or high\u2010amplitude \u03b2 rhythm (&gt;50\u03bcV). The EEG findings were not associated with the MRI changes or with the age or the sex of the patients. Early degenerative and atrophic brain changes and abnormal EEG are thus features of GA, in addition to the well\u2010characterized eye and muscle manifestations.<\/jats:p>","DOI":"10.1023\/a:1005602405349","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"855-866","source":"Crossref","is-referenced-by-count":42,"title":["Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia"],"prefix":"10.1002","volume":"22","author":[{"given":"M.","family":"Valtonen","sequence":"first","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"N\u00e4nt\u00f6\u2010Salonen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"J\u00e4\u00e4skel\u00e4inen","sequence":"additional","affiliation":[{"name":"Sports and Exercise Medicine Unit, Department of Physiology University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Hein\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Alanen","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. J.","family":"Heinonen","sequence":"additional","affiliation":[{"name":"Sports and Exercise Medicine Unit, Department of Physiology University of Turku  Turku Finland"},{"name":"Central Laboratory Turku University Central Hospital  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Lundbom","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Erkintalo","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Simell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Turku  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1999,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050322"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1993.01090090106028"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418519403500203"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540110075008"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00083-0"},{"key":"e_1_2_1_7_1","first-page":"33","article-title":"Nonspecific leukoencephalopathy associated with aging","volume":"5","author":"Golomb J","year":"1995","journal-title":"Neuroimaging Clin North Am"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496982"},{"key":"e_1_2_1_9_1","first-page":"929","article-title":"Large Virchow\u2013Robin spaces: MR\u2013clinical correlation","volume":"10","author":"Heier LA","year":"1989","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2362.1999.00467.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","unstructured":"Hein\u00e4nenK N\u00e4nt\u00f6\u2013SalonenK KomuM et al (2000).Creatine corrects muscle31P spectrum in gyrate atrophy with hyperornithinaemia.J Inherit Metab Dis in press..","DOI":"10.1046\/j.1365-2362.1999.00569.x"},{"key":"e_1_2_1_12_1","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt IJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000111451"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.1997.272.5.C1567"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.2.339"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3223(91)90210-D"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530010035015"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(81)35030-1"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.3.807"},{"key":"e_1_2_1_20_1","first-page":"153","article-title":"Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations","volume":"73","author":"McCulloch C","year":"1976","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00342387"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1819.1977.tb02726.x"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/155005949202300205"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1989.tb09154.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"crossref","unstructured":"N\u00e4nt\u00f6\u2013SalonenK KomuM LundbomN et al (1999)Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia.Neurology in press..","DOI":"10.1212\/WNL.53.2.303"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80059-3"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.189.1.7690491"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.1093"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70075-1"},{"key":"e_1_2_1_30_1","first-page":"271","article-title":"Myopathy in hyperornithinemic gyrate atrophy of choroid and retina","volume":"17","author":"Shapira Y","year":"1981","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)90667-3"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(80)90194-1"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109905"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.7.996"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198104093041503"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00839969"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01396196"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199409000-00023"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)04116-5"},{"key":"e_1_2_1_40_1","first-page":"903","article-title":"Gyrate atrophy of the choroid and retina with hyperornithinemia","volume":"58","author":"Takki K","year":"1974","journal-title":"Br J Opthalmol"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(81)35031-3"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(95)01229-X"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80024-6"},{"key":"e_1_2_1_44_1","first-page":"1147","volume-title":"The Metalobic and Molecular Bases of Inherited Disease","author":"Valle D","year":"1995"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799162"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(85)34098-8"},{"key":"e_1_2_1_47_1","first-page":"371","volume-title":"Current Practice of Clinical Electroencephalography","author":"Vas GA","year":"1990"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005602405349","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005602405349","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:02:04Z","timestamp":1694750524000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005602405349"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,12]]},"references-count":46,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1999,12]]}},"alternative-id":["10.1023\/A:1005602405349"],"URL":"https:\/\/doi.org\/10.1023\/a:1005602405349","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,12]]}}}