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NEUROLOGY 1988;38:1124
© 1988 American Academy of Neurology

Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters

G. C. Guazzi, MD, I. D'Amore, MD, F. Van Hoof, MD, C. Fruschelli, MD, C. Aledsandrini, MD, S. Palmeri, MD and A. Federico, MD

From Istituto di Scienze Neurologiche e Centro per lo Studio delle Kncefalo-Neuro-Miopatie Genetiche (Drs. Guazzi, D'Amore, Palmeri, and Federico), University of Siena, and Istituto di Iatologia ed Embriologia Generale (Drs. Fruschelli and Alessandrini), Facolta di Medicina, University of Siena, Italy; and the Laboratoire de Chimie Physiologique (Dr. Van Hoof), University of Louvain, Brussels, Belgium.

Three sisters (ages 27, 24, and 17 years) presented with slowly progressing dystonic dementia and spastic tetraparesis with infantile onset. CSF, bone marrow, and conjunctival cells showed storage vacuoles. Biochemical analysis revealed increased urinary oligosaccharide excretion and decreased activity of acid {alpha}-D-galactosidase and ß-D-fucosidase in serum, leukocytes, and cultured fibroblasts. The parents' enzyme values were in the heterozygous range. This is the only case in the literature of severe dementia associated with the clinical symptoms of type 3 GM1 gangliosidosis. The clinical heterogeneity of GM1 gangliosidosis and the significance of the combination of {alpha}-D-galactosidase and ß-D-fucosidase defects in this syndrome are discussed.

Address correspondence and reprint requests to Prof. Federico, Institute of Neurological Sciences, Facoltà di Medicina, Università di Siena. 53100 Siena. Italy.

Received October 28, 1986. Accepted for publication in final form November 2, 1987.

Supported in part by grants from CNR Project "Ingegneria Genetica e Basi Molecolari delle Malattie Ereditarie," the Ministero della Pubblica Istruzione, the Belgian Fonds de la Recherche Scientifique Medicale, and the US Public Health Services (Grant AM9235).




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