{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:09:54Z","timestamp":1777802994144,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2010,5,5]],"date-time":"2010-05-05T00:00:00Z","timestamp":1273017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of \u03b3-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and seizures. Magnetic resonance imaging (MRI) with volumetry was obtained on 7 patients versus controls, and MRI with stereology was derived in 3 murine genotypes: null, wild-type, and heterozygous mutants. All patients had T1 hypointensity and T2 hyperintensity in globus pallidus, and 5 also had similar changes in subthalamic and cerebellar dentate nuclei. There was a trend for patients to have a smaller cerebellar vermis. Homozygous null mice had significantly lower total brain and cerebellar volumes than wild-types and heterozygotes. Stereology confirmed cerebellar atrophy and was otherwise normal in multiple regions. Cerebellar volume loss is present in the murine disorder with a trend for cerebellar atrophy in patients. Reduced cerebellar volume can reflect neurodegeneration and may be related to the clinical manifestations.<\/jats:p>","DOI":"10.1177\/0883073810368137","type":"journal-article","created":{"date-parts":[[2010,5,5]],"date-time":"2010-05-05T22:35:26Z","timestamp":1273098926000},"page":"1457-1461","source":"Crossref","is-referenced-by-count":10,"title":["Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency"],"prefix":"10.1177","volume":"25","author":[{"given":"Maria T.","family":"Acosta","sequence":"first","affiliation":[{"name":"Clinical Epilepsy Section, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland, Department of Neurology, Children's National Medical Center, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeeva","family":"Munasinghe","sequence":"additional","affiliation":[{"name":"Mouse Imaging Facility, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip L.","family":"Pearl","sequence":"additional","affiliation":[{"name":"Clinical Epilepsy Section, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland, Department of Neurology, Children's National Medical Center, Washington, DC,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maneesh","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey","family":"Finegersh","sequence":"additional","affiliation":[{"name":"Clinical Epilepsy Section, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. Michael","family":"Gibson","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Michigan Technological University, Houghton, Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William H.","family":"Theodore","sequence":"additional","affiliation":[{"name":"Clinical Epilepsy Section, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,5,5]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.1.461"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/bms.1200190207"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000059549.70717.80"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1017\/S1092852900016874"},{"key":"atypb5","unstructured":"Pearl PL, Acosta MT, Wallis DD, et al. 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