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NEUROLOGY 1991;41:1382
© 1991 American Academy of Neurology

Globoid cell leukodystrophy

A family with both late-infantile and adult type

P. Verdru, MD, M. Lammens, MD, R. Dom, MD, PhD, A. Van Elsen, DSc, PhD and H. Carton, MD, PhD

Dienst voor Neurologie (Drs. Verdru and Carton) and Neuropathologie (Drs. Lammens and Dom), Universitaire Ziekenhuizen, Leuven; and Centrum voor Medische Genetica (Dr. Van Elsen), Universiteit Antwerpen, Belgium.

We present a patient with adult-onset globoid cell leukodystrophy (GBL) who had almost complete deficiency of galactosylceramide ß-galactosidase. A brother of the index patient deteriorated neurologically and died at the age of 4, probably from the late-infantile form of the disease. In this family, two clinical types of GBL are probably different expressions of an identical genotype.

Address correspondence and reprint requests to Dr. Peter Verdru, Department of Neurology, UZ Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium.

Received November 14, 1990. Accepted for publication in final form February 5, 1991.




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