Adult GM1-gangliosidosis: clinical patterns and rectal biopsy

We studied a family with adult GM1-gangliosidosis. The proband, aged 38, had slowly progressive extrapyramidal signs with prominent dystonia, starting at about age 19. Two other patients, aged 45 and 43, had occasional slight dystonia, but led normal social lives because of mildness of their symptoms. Rectal biopsy of the proband showed histiocytic infiltration and membranous cytoplasmic bodies in the autonomic neurons. This family shows the clinical heterogeneity in adult GM1-gangliosidosis.