{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:40:41Z","timestamp":1787503241768,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,2,1]],"date-time":"2001-02-01T00:00:00Z","timestamp":980985600000},"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":[[2001,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>GM2\u2010gangliosidosis (McKusick 268800 and 272800) is a rare hereditary, progressive disorder of ganglioside metabolism caused by deficiency of lysosomal \u03b2\u2010hexosaminidase (EC 3.2.1.52) activity. It is characterized by severe central nervous system involvement. Involvement of the peripheral and autonomic nervous system has been suspected but rarely documented in published case reports in the chronic form of the disease. Four patients, aged 24\u201329 years, with chronic GM2\u2010gangliosidosis were examined prospectively for evidence of peripheral and autonomic nervous system dysfunction. All had nerve conduction studies, sympathetic skin responses and cardiac monitoring during the head tilt\u2010table test. Three patients had objective evidence of autonomic dysfunction with abnormal sympathetic nervous skin responses and axonal sensorimotor polyneuropathy. None of the patients had evidence of significant cardiovascular autonomic dysfunction on the head tilt\u2010table test. The peripheral and autonomic nervous system may be involved in patients with chronic GM2\u2010gangliosidosis. In some cases, this may be clinically significant. On the other hand, cardiovascular autonomic instability is apparently not a significant problem in young adult patients with the disease.<\/jats:p>","DOI":"10.1023\/a:1005662906859","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T18:07:17Z","timestamp":1040494037000},"page":"65-71","source":"Crossref","is-referenced-by-count":25,"title":["Peripheral and autonomic nervous system involvement in chronic GM2\u2010gangliosidosis"],"prefix":"10.1002","volume":"24","author":[{"given":"M. S.","family":"Salman","sequence":"first","affiliation":[{"name":"Division of Neurology University of Toronto and Hospital for Sick Children  Toronto"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. T. R.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Toronto and Division of Clinical Genetics, Hospital for Sick Children  Toronto"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Midroni","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Toronto and Division of Neurology, St Michael's Hospital  Toronto"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. B.","family":"Waxman","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Toronto and Division of Cardiology, Toronto General Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,2]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Autonomic Failure\u00f6A Textbook of Diseases of the Autonomic Nervous System","author":"Bannister R","year":"1992"},{"key":"e_1_2_1_3_1","first-page":"1053","article-title":"Autonomic nervous system and cardiac death","volume":"27","author":"Barron HV","year":"1996","journal-title":"JAmColl Cardiol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410190608"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799737"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112174"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280539"},{"key":"e_1_2_1_8_1","first-page":"2839","volume-title":"TheMetabolic and Molecular Bases of Inherited Disease","author":"Gravel RA","year":"1995"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.65.3.338"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(94)90715-3"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02334949"},{"key":"e_1_2_1_12_1","first-page":"1032","article-title":"Juvenile Sandho\u00a1 dis\u2010ease with local pan\u2010atrophy, a case report","volume":"29","author":"Nakano R","year":"1989","journal-title":"Rinsho Shinkeigaku\u00f6Clin Neurol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199708)20:8<919::AID-MUS1>3.0.CO;2-9"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.5.520"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.787"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005662906859","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005662906859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T16:22:56Z","timestamp":1694794976000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005662906859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,2]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,2]]}},"alternative-id":["10.1023\/A:1005662906859"],"URL":"https:\/\/doi.org\/10.1023\/a:1005662906859","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,2]]}}}