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

Abstract

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of G,M-gangliosidosis, variant 0) 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.