Dystonia and parkinsonism in GM1 type 3 gangliosidosis
Movement Disorders2005Vol. 20(10), pp. 1366–1369
Citations Over TimeTop 18% of 2005 papers
Emmanuel Roze, Eduard Paschke, Nathalie Lopez, T. F. Eck, Kunihiro Yoshida, Annie Maurel‐Ollivier, Diane Doummar, Catherine Caillaud, Damien Galanaud, Thierry Billette de Villemeur, Marie Vidailhet, Anne Roubergue
Abstract
GM1 gangliosidosis is due to beta-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.
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