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. 1995 Nov;59(5):520–523. doi: 10.1136/jnnp.59.5.520

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

H Schnorf 1, R Gitzelmann 1, N U Bosshard 1, M Spycher 1, W Waespe 1
PMCID: PMC1073716  PMID: 8530938

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.

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Selected References

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