Giant Axonal Disease: Report of Three Cases and Review of the Literature
- 1 February 1988
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 19 (01) , 10-15
- https://doi.org/10.1055/s-2008-1052394
Abstract
We describe three cases of Giant Axonal Neuropathy (GAN) with clinical signs of central nervous system involvement and an abnormal CT in one case. Two of these cases are sibs, pointing to an autosomal recessive inheritance as two other families previously reported. The review of the literature shows that most cases have central nervous system and cranial nerves involvement suggesting a generalized disorder in keeping an inborn error of organization of intermediate filaments. According to this, we think that Giant Axonal Disease (GAD) is a better designation to this condition.This publication has 9 references indexed in Scilit:
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