The clinical aspects of adult hexosaminidase deficiencies

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM<inf>2</inf> gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM<inf>2</inf> gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance. © 1991 S. Karger AG, Basel.