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Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
  1. H Schnorf,
  2. R Gitzelmann,
  3. N U Bosshard,
  4. M Spycher,
  5. W Waespe
  1. Department of Neurology, University Hospital, Zürich, Switzerland.

    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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