Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
Open Access
- 1 November 1995
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 59 (5) , 520-523
- https://doi.org/10.1136/jnnp.59.5.520
Abstract
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.Keywords
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