g(m1)-ganglioside and Dystonia

We describe three brothers with type 3 GM1 gangliosidosis presenting as dystonia. The ages of the patients when examined were 28, 31, and 33. They had developed dysarthria with facial grimacing since early childhood. The common neurological sign was generalized dystonia. Both dystonic postures and dystonic movements resulting from varying degrees of fixed rigidity of each muscle involved did not disappear when the patients were lying or sitting relaxed. There was no correlation between the severity of dystonia and the residual activities of acid beta-galactosidase. Magnetic resonance imaging (MRI) showed bilaterally symmetric high intensity lesions only in the putamen on T2-weighted and proton density images. Selective putaminal changes on MRI may be the lesions most responsible for symptomatic dystonia in this disorder.

Topics: Adult; beta-Galactosidase; Brain; Consanguinity; Dystonia; G(M1) Ganglioside; Gangliosidosis, GM1; Humans; Inclusion Bodies; Magnetic Resonance Imaging; Male; Microscopy, Electron; Neurologic Examination; Pedigree

Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside beta-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.

Topics: Adult; Chronic Disease; Dystonia; G(M1) Ganglioside; Gangliosidoses; Humans; Male

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.

Topics: Adult; Biopsy; Brain; Chromatography, Thin Layer; Dystonia; Female; G(M1) Ganglioside; Gangliosides; Gangliosidoses; Histiocytes; Humans; Male; Microscopy, Electron; Middle Aged; Oligosaccharides; Pedigree; Rectum; Submucous Plexus; Tomography, X-Ray Computed