期刊
MOVEMENT DISORDERS
卷 20, 期 10, 页码 1366-1369出版社
WILEY-LISS
DOI: 10.1002/mds.20593
关键词
GM1 gangliosidosis; beta-galactosidosis; beta-galactosidase deficiency; symptomatic dystonia; parkinsonism; lysosomal storage disorder
GM1 gangliosidosis is due to P-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. (c) 2005 Movement Disorder Society.
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