{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:47Z","timestamp":1791013307548,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,11,4]],"date-time":"2009-11-04T00:00:00Z","timestamp":1257292800000},"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":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>GM<jats:sub>2<\/jats:sub>\u2010gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme \u03b2\u2010hexosaminidase, resulting in the accumulation of ganglioside GM<jats:sub>2<\/jats:sub> in various tissues, particularly the central nervous system. It is characterized by progressive neurological deterioration that mainly affects motor and spinocerebellar function. Several forms of GM<jats:sub>2<\/jats:sub>\u2010gangliosidosis exist, including the Sandhoff variant. Currently there is no treatment for these conditions, except for palliative care. Miglustat (Zavesca) is a reversible inhibitor of glucosylceramide synthase, which catalyses the first committed step in the synthesis of glucose\u2010based glycolipids. Miglustat has pharmacokinetic properties that allow it to cross the blood\u2010brain barrier, and preclinical data suggest that it may benefit neuronopathic lysosomal storage diseases. Here we present a case report of a Norwegian patient with Sandhoff disease treated with miglustat at our centre in Norway. The patient initially presented with ataxia and dysarthria at 2\u20133 years of age, which progressed slowly during childhood. At age 14, he experienced episodes of depression and apathy, leading to weight loss. He was diagnosed with Sandhoff disease at age 16. Following 2.5 years of treatment with miglustat, his body weight was stabilized and disease progression appeared to have slowed, as evidenced by the lack of progressive brain atrophy. His depressive symptoms were managed using electroconvulsive treatment (ECT), which improved general functioning. These findings suggest that miglustat may provide beneficial effects in patients with juvenile Sandhoff disease, and that ECT may alleviate depressive symptoms.<\/jats:p>","DOI":"10.1007\/s10545-009-1224-7","type":"journal-article","created":{"date-parts":[[2009,11,6]],"date-time":"2009-11-06T08:27:58Z","timestamp":1257496078000},"page":"289-293","source":"Crossref","is-referenced-by-count":23,"title":["Miglustat therapy in juvenile Sandhoff disease"],"prefix":"10.1002","volume":"32","author":[{"given":"C. M. E.","family":"Tallaksen","sequence":"first","affiliation":[{"name":"Department of Neurology Ullev\u00e5l University Hospital, Oslo and Faculty of Medicine, University of Oslo Oslo 0407 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Lovisenberg Diakonal Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,11,4]]},"reference":[{"issue":"1","key":"e_1_2_8_2_1","first-page":"S160","article-title":"Pharmacokinetics of miglustat in juvenile GM2 gangliosidosis","volume":"29","author":"Clarke JTR","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000028777.38551.5a"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6388"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20242"},{"issue":"1","key":"e_1_2_8_6_1","first-page":"130","article-title":"Substrate reduction therapy in Sandhoff disease: evidence for improvement in nervous function in patients treated with miglustat","volume":"29","author":"Lachmann RH","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0588"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.06.005"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.04.013"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90044-A"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)37202-2"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.428"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1982.00510200049009"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.145"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/00498250601094543"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1224-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1224-7","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1224-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:16:17Z","timestamp":1694747777000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1224-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,4]]},"references-count":15,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1224-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1224-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,4]]}}}