Neurophysiological studies in GM1, gangliosidosis
β Scribed by A. Harden; Z. Martinovic; G. Pampiglione
- Publisher
- Springer Milan
- Year
- 1982
- Tongue
- English
- Weight
- 436 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1590-1874
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## Abstract GM1 gangliosidosis is due to Ξ²βgalactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in nonβJapanese patients. We describe four new patients and systematically analyze
Infantile, juvenile, and adult forms of G M 1 gangliosidosis have been well characterized. Certain genetic and biochemical studies have suggested that the phenotypic variation found in G,, gangliosidosis results from different allelic mutations affecting the G,, ganglioside p-galactosidase locus and