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Keywords:

  • GM1 gangliosidosis;
  • beta-galactosidosis;
  • beta-galactosidase deficiency;
  • symptomatic dystonia;
  • parkinsonism;
  • lysosomal storage disorder

Abstract

GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic–rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia. © 2005 Movement Disorder Society