{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:01:20Z","timestamp":1761102080326},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>Adult\u2010onset <jats:styled-content style=\"fixed-case\">GM<jats:sub>2<\/jats:sub><\/jats:styled-content> gangliosidosis is very rare and only three autopsy cases have been reported up to now. We report herein an autopsy case of adult\u2010onset <jats:styled-content style=\"fixed-case\">GM<jats:sub>2<\/jats:sub><\/jats:styled-content> gangliosidosis. The patient developed slowly progressive motor neuron disease\u2010like symptoms after longstanding mood disorder and cognitive dysfunction. He developed gait disturbance and weakness of lower limbs at age 52 years. Because of progressive muscle weakness and atrophy, he became bed\u2010ridden at age 65. At age of 68, he died. His neurological findings presented slight cognitive disturbance, slight manic state, severe muscle weakness, atrophy of four limbs and no extrapyramidal signs and symptoms, and cerebellar ataxia. Neuropathologically, mild neuronal loss and abundant lipid deposits were noted in the neuronal cytoplasm throughout the nervous system, including peripheral autonomic neurons. The most outstanding findings were marked neuronal loss and distended neurons in the anterior horn of the spinal cord, which supports his clinical symptomatology of lower motor neuron disease in this case. The presence of lipofuscin, zebra bodies and membranous cytoplasmic bodies (<jats:styled-content style=\"fixed-case\">MCB<\/jats:styled-content>) and the increase of <jats:styled-content style=\"fixed-case\">GM<jats:sub>2<\/jats:sub><\/jats:styled-content> ganglioside by biochemistry led to diagnosis of <jats:styled-content style=\"fixed-case\">GM<jats:sub>2<\/jats:sub><\/jats:styled-content> gangliosidosis.<\/jats:p>","DOI":"10.1111\/neup.12088","type":"journal-article","created":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T07:45:35Z","timestamp":1387525535000},"page":"304-308","source":"Crossref","is-referenced-by-count":7,"title":["Late onset <scp>GM<sub>2<\/sub><\/scp> gangliosidosis presenting with motor neuron disease: An autopsy case"],"prefix":"10.1111","volume":"34","author":[{"given":"Teruo","family":"Yokoyama","sequence":"first","affiliation":[{"name":"Department of Neurology Sagamihara National Hospital  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seigo","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology Sagamihara National Hospital  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiko","family":"Horiuchi","sequence":"additional","affiliation":[{"name":"Department of Neurology Sagamihara National Hospital  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyako","family":"Ishiyama","sequence":"additional","affiliation":[{"name":"Division of Pathology Kanagawa Rehabilitation Center  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rei","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Kitasato University Graduate School of Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Molecular Medical Biology Kitasato University Graduate School of Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuko","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Neurology Sagamihara National Hospital  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saburo","family":"Yagishita","sequence":"additional","affiliation":[{"name":"Division of Pathology Kanagawa Rehabilitation Center  Kanagawa 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