{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T12:32:14Z","timestamp":1770813134016,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":8560,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1981,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Clinical and pathological studies are reported from investigation of a 27\u2010year\u2010old man with G<jats:sub>M1<\/jats:sub> gangliosidosis who experienced a slowly progressive dystonia that began about age 4, primarily affected the face and limbs, and eventually became almost totally incapacitating. There was only mild intellectual deterioration; myoclonus, seizures, and macular cherry\u2010red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Golgi studies revealed meganeurites arising from medium spiny neurons. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized \u03b2\u2010galactosidase deficiency with specific accumulation of G<jats:sub>M1<\/jats:sub> ganglioside in the basal ganglia.<\/jats:p>","DOI":"10.1002\/ana.410090509","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:25:41Z","timestamp":1104585941000},"page":"465-475","source":"Crossref","is-referenced-by-count":60,"title":["Chronic G<sub>M1<\/sub> gangliosidosis presenting as dystonia: I. Clinical and pathological features"],"prefix":"10.1002","volume":"9","author":[{"given":"James E.","family":"Goldman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Katz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Rapin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominick P.","family":"Purpura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinuko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02055.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010205"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(70)90104-2"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196904102801502"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439006"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1980.tb07097.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.128.3.387"},{"key":"e_1_2_1_9_2","first-page":"17","volume-title":"Iontophoresis and Transmitter Mechanisms in the Mammalian Central Nervous System","author":"Kitai ST","year":"1978"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313045"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410090510"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb02272.x"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040106"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196908142810702"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060310"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80387-2"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01603.x"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01476.x"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1965.02090020340014"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1968.tb07292.x"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441360"},{"key":"e_1_2_1_22_2","first-page":"111","article-title":"The liver in GM1\u2010gangliosidosis types 1 and 2","volume":"99","author":"Petrelli M","year":"1975","journal-title":"Arch Pathol"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(78)90749-7"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(78)90748-5"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(76)90245-6"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460100061007"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500020048008"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01185.x"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.159.3822.1471"},{"key":"e_1_2_1_30_2","first-page":"173","article-title":"Neuronal storage disease: a review","volume":"3","author":"Suzuki K","year":"1976","journal-title":"Prog Neuropathol"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196801000-00002"},{"key":"e_1_2_1_32_2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/00005072-196901000-00003","article-title":"Chemical pathology of GM1\u2010gangliosidosis (generalized gangliosidosis)","volume":"38","author":"Suzkui K","year":"1969","journal-title":"J Neuropathol Exp Neuropathol Exp Neurol"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.2.190"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(79)80014-5"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273261"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00158.x"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(78)90915-4"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.1.23"},{"key":"e_1_2_1_39_2","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1001\/archinte.1974.00320220029002","article-title":"Loxalized \u03b2\u2010galactosidase deficiency. 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