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January 1971

GM1-Gangliosidosis: Correlation of Clinical and Biochemical Data

Author Affiliations

Philadelphia; Boston; Philadelphia
From the Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia (Drs. Y. Suzuki and K. Suzuki); the Mental Retardation Unit, Children's Hospital Medical Center and the Department of Pediatrics, Harvard Medical School (Dr. Crocker), Boston.

Arch Neurol. 1971;24(1):58-64. doi:10.1001/archneur.1971.00480310086008

IN 1964, Landing et al1 established "familial neurovisceral lipidosis" as a clinicopathological entity. The same disease has also been called generalized gangliosidosis,2-7 late infantile systemic lipidosis,8-11 GM1-gangliosidosis,3,12-18 familial infantile amaurotic idiocy with visceral involvement,19,20 biochemically special form of infantile amaurotic idiocy,21,22 and Landing disease.5,14,17,23 The disease is characterized by generalized accumulation of a monosialoganglioside, GM1 (ganglioside nomenclature of Svennerholm24 ), and visceral accumulation of keraton sulfate-like mucopolysaccharide.12,18 Enzymatically, deficiency of β-galactosidase has been demonstrated in various organs.4,5,7,14,16-18,23,25,26

From the clinical viewpoint, there appear to be two subtypes.10 Patients in the infantile age category often exhibit abnormal facies, full forehead, and radiologically detectable bony changes reminiscent of Hurler's syndrome. On the other hand, some older patients in the "late infantile" age group show few or no clinical or radiologie signs of Hurler's syndrome.

The present study was