{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T15:11:20Z","timestamp":1747753880207},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4695,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1991,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We measured the levels if aspartate, glutamate, gamma\u2010aminobutyric acid (GABA), and other amino acids in autopsied brain of 6 patients from one family (Pedigree S) with dominantly inherited olivopontocerebellar atrophy. A previous demonstration of redeuced aspartate concentration in plasma of affected members of this family suggested the possibility of a generalized disorder of amino acid metabolism affecting the brain. As compared with the control levels, mean levels of aspartate and glutamate were markedly reduced by about 70 and 40\u00b0, respectively, in the degenerated cerebellar cortex from the patients. Since the cerebellar asparate reduction liekly exceeds the amount that could be explained by neuronal loss, other factors such as abnormal asparate metabolism, neurotransmitter turnover, or both are probably involved. Mean aspartate, glutamate, and GABA levels were also reduced by about 10 to 30\u00b0 in most of the 16 examined extracerebellar brain areas in which no or, at most, mild neuronal cell loss was observed by semiquantitative estimation. Concentrations of taurine, glutamine, and <jats:italic>o<\/jats:italic>\u2010phosphoethanolamine were normal in all brain areas examined. Our biochemical data provide support to the presence of a generalized, but quantitatively mild, disturbance in amino acid metabolism in patients with olivopontocerebellar atrophy from Pedigree S. The regionally widespread amino acid reductions in the brain, of as yet unknown pathophysiological significance, could be due to a failure of one or more enzymes involved in aspartate and glutamate metabolism.<\/jats:p>","DOI":"10.1002\/ana.410300606","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:06:50Z","timestamp":1104581210000},"page":"780-784","source":"Crossref","is-referenced-by-count":11,"title":["Brain amino acid reductions in one family with chromosome 6p\u2014linked dominantly inherited olivopontocerebellar atrophy"],"prefix":"10.1002","volume":"30","author":[{"given":"Stephen J.","family":"Kish","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Robitaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munir","family":"El\u2010Awar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Deck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Jan","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence","family":"Schut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(84)90148-6"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070403"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00965128"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.10.1332"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410150206"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(86)90108-5"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410190304"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.51.7.893"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.51.8.1078"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1988.tb03675.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314407"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1989.tb03816.x"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1990.tb01610.x"},{"key":"e_1_2_1_15_2","first-page":"79","article-title":"Abnormal aspartate\/malate metabolism in dominantly inherited olivopontocerebellar degeneration","volume":"12","author":"Plaitakis A","year":"1982","journal-title":"Ann Neurol"},{"key":"e_1_2_1_16_2","first-page":"225","volume-title":"The olivopontocerebellar atrophies","author":"Plaitakis A","year":"1984"},{"key":"e_1_2_1_17_2","first-page":"75","article-title":"Hereditary ataxia: clinical study through six generations","volume":"168","author":"Schut JW","year":"1950","journal-title":"Arch Neurol Psychiatry"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.3.257"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.3.237"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(85)90059-0"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.2.193"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530020094021"},{"key":"e_1_2_1_23_2","first-page":"524","article-title":"Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6","volume":"41","author":"Rich SS","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_24_2","first-page":"31","article-title":"Localization of the autosomal dominant HLA\u2010linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8cM sub\u2010region of chromosome 6p","volume":"49","author":"Ranum LPW","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(81)90669-X"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198411000-00003"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1990.tb01201.x"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973323"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.12.1845"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240314"},{"key":"e_1_2_1_31_2","first-page":"681","article-title":"Branched chain amino acids in amyotrophic lateral sclerosis","volume":"2","author":"Malessa S","year":"1988","journal-title":"Lancet"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280104"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.1.106"},{"issue":"2","key":"e_1_2_1_34_2","first-page":"239","article-title":"Brain glutamate and metabolizing enzymes in dominantly\u2010inherited olivopontocerebellar atrophy (OPCA)","volume":"1","author":"Kish SJ","year":"1989","journal-title":"Eur J Neurosci"},{"key":"e_1_2_1_35_2","doi-asserted-by":"crossref","first-page":"20730","DOI":"10.1016\/S0021-9258(19)47124-X","article-title":"Characterization of glutamate dehydrogenase isoproteins purified from the cerebellum of normal subjects and patients with degenerative neurological disorders, and from human neoplastic cell lines","volume":"264","author":"Hussain MM","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1989.tb01850.x"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(88)90765-2"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/0197-4580(89)90153-X"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410300606","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410300606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T01:03:23Z","timestamp":1698023003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410300606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1991,12]]}},"alternative-id":["10.1002\/ana.410300606"],"URL":"https:\/\/doi.org\/10.1002\/ana.410300606","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12]]}}}