{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:05:56Z","timestamp":1790269556186,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T00:00:00Z","timestamp":1086825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2004,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deficiency of enzyme acid \u03b2\u2010galactosidase causes G<jats:sub>M1<\/jats:sub> gangliosidosis. Patients with adult G<jats:sub>M1<\/jats:sub> gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult G<jats:sub>M1<\/jats:sub> gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and October 2002. The disease frequently is reported in the Japanese literature (75%). Patients are normal at birth and have normal early motor and mental development. Onset is within the first decade with abnormal gait, or worsening of speech is an initial symptom. Dystonia occurs in 97% of patients. Facial dystonia described as \u201cfacial grimacing\u201d observed in \u223c90% could be an important clinical clue. Dysarthria\/anarthria (97%) is frequent, and eye movements are normal. Bone marrow examination may show Gaucher\u2010like foam cells (39%). Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2\u2010weighted and proton density images. Diagnosis is confirmed by demonstrating deficiency of \u03b2\u2010galactosidase. Adult (Type 3) G<jats:sub>M1<\/jats:sub> Gangliosidosis commonly presents with generalized dystonia with prominent facial dystonia, severe speech disturbances, and normal eye movements. Bone marrow frequently shows Gaucher\u2010like foam cells. MRI shows typical lesions in the putamen. Deficiency of \u03b2\u2010galactosidase in fibroblasts confirms the diagnosis. \u00a9 2004 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20193","type":"journal-article","created":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T13:02:13Z","timestamp":1086872533000},"page":"1334-1341","source":"Crossref","is-referenced-by-count":81,"title":["Clinical features of adult G<sub>M1<\/sub> gangliosidosis: Report of three Indian patients and review of 40 cases"],"prefix":"10.1002","volume":"19","author":[{"given":"Uday","family":"Muthane","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasha","family":"Chickabasaviah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Kaneski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susurla K.","family":"Shankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayathri","family":"Narayanappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Christopher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srikanth Subbamma","family":"Govindappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,10]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410090509"},{"key":"e_1_2_6_3_2","first-page":"435","article-title":"Human beta\u2010galactosidase gene mutations in GM1\u2010gangliosidosis: a common mutation among Japanese adult\/chronic cases","volume":"49","author":"Yoshida K","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310316"},{"key":"e_1_2_6_5_2","first-page":"332","volume-title":"Movement disorders 2","author":"Fahn S","year":"1987"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273261"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00158.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.6.875"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.10.1490"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.1.54"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.7.1124"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314770"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10247"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1992.tb05497.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(85)90060-7"},{"key":"e_1_2_6_16_2","first-page":"2785","volume-title":"The metabolic and molecular basis of inherited disease","author":"Suzuki Y","year":"1995"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870100204"},{"issue":"2","key":"e_1_2_6_18_2","first-page":"96","article-title":"A new variety of dystonia with a phenotype mimicking Niemann\u2010Pick type C or a new variant of Niemann Pick type C disease","volume":"13","author":"Muthane UB","year":"1998","journal-title":"Mov Disord"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870070303"},{"key":"e_1_2_6_20_2","first-page":"265","volume-title":"Dystonia 2","author":"Rutledge JN","year":"1988"},{"key":"e_1_2_6_21_2","first-page":"303","article-title":"Gaucher\u2010like cells in juvenile GM1\u2010gangliosidosis and in beta\u2010thalassemia \u2010\u2010 A histochemical and ultrastructural observation","volume":"29","author":"Hakozaki H","year":"1979","journal-title":"Acta Pathol Jpn"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20193","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20193","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:54:55Z","timestamp":1760961295000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,10]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["10.1002\/mds.20193"],"URL":"https:\/\/doi.org\/10.1002\/mds.20193","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,10]]}}}