| Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis. | |
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MedLine Citation:
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PMID: 11286385 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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GM2-gangliosidosis (McKusick 268800 and 272800) is a rare hereditary, progressive disorder of ganglioside metabolism caused by deficiency of lysosomal beta-hexosaminidase (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 24-29 years, with chronic GM2-gangliosidosis 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-table 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-table test. The peripheral and autonomic nervous system may be involved in patients with chronic GM2-gangliosidosis. 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. |
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Authors:
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M S Salman; J T Clarke; G Midroni; M B Waxman |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 24 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-04-04 Completed Date: 2001-06-21 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 65-71 Citation Subset: IM |
Affiliation:
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Division of Neurology, University of Toronto and Hospital for Sick Children, ON, Canada. Michael.Salman@sickkids.on.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Autonomic Nervous System / physiopathology* Female Heart / innervation, physiopathology Humans Male Peripheral Nervous System / physiopathology* Sandhoff Disease / physiopathology* Skin / innervation, physiopathology Tay-Sachs Disease / physiopathology* |
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