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NEUROLOGY 1990;40:145
© 1990 American Academy of Neurology

The juvenile and chronic forms of GM2 gangliosidosis

Clinical and enzymatic heterogeneity

N. Specola, MD, M. T. Vanier, MD, F. Goutières, MD, J. Mikol, MD and J. Aicardi, MD

INSERM and Neurology Unit (Drs. Specola, Goutières, and Aicardi), Hôpital des Enfants Malades, Paris; INSERM U 189 (Dr. Vanier), Faculté de Médecine Lyon-Sud, Oullins; and the Laboratory of Neuropathology (Dr. Mikol), Hôpital Sainte Anne, Paris, France.

We report the cases of 5 patients from 2 sibships with the "adult" or chronic form of GM2 gangliosidosis and 2 patients from another sibship with the juvenile form. We demonstrated hexosaminidase A deficiency in all cases but in 1 sibship the enzymatic profile was identical to that in Tay-Sachs disease, whereas in the remaining 2 families it was that of the B1 variant. There was no correlation between the clinical features and the enzymatic profile. Hexosaminidase A deficiency should be considered in unexplained progressive neurologic disorders of childhood and adolescence, including isolated dementia. EMG evidence of anterior horn cell involvement in association with neurologic or cognitive deterioration may be a diagnostic clue in the juvenile forms.

Address correspondence and reprint requests to Dr. J. Aicardi, Hôpital des Enfants Malades, 149, Rue de Sèvres, F-75743 Paris, CEDEX 15, France.

Received September 21, 1988. Accepted for publication in final form June 22, 1989.




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