Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two...
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Published in | Journal of neurology, neurosurgery and psychiatry Vol. 59; no. 5; pp. 520 - 523 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd
01.11.1995
BMJ BMJ Publishing Group LTD |
Subjects | |
Online Access | Get full text |
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Summary: | Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis. |
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Bibliography: | ark:/67375/NVC-CDQD1GG2-X PMID:8530938 href:jnnp-59-520.pdf local:jnnp;59/5/520 istex:79BE2E6BF1A8E7099DB733EFEEF87F6C79A238C4 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0022-3050 1468-330X |
DOI: | 10.1136/jnnp.59.5.520 |