EARLY AND SEVERE SENSORY LOSS IN 3 ADULT SIBLINGS WITH HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B DEFICIENCY (SANDHOFF-DISEASE)

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of G(M2)-gangliosidosis, variant O) deve loped early and severe sensory loss in addition to chronic motor neuro n disease and cerebellar ataxia. Prominent mechanoallodynia was a mani festing 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 G(M2)-gangl iosidosis.