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Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

Annals of Movement Disorders(2019)

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摘要
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase. The wishbone pattern of iron deposition which involves the medial and latter parts of the globus pallidus is pathognomonic of this disease. The diagnosis of type III GM1 gangliosidosis should be considered in patient with young onset, progressive generalized dystonia with prominent facial dystonia, and a wishbone pattern of iron deposition.
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关键词
gm1 gangliosidosis,wishbone,iron deposition
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