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Neuropediatrics 1988; 19(1): 10-15
DOI: 10.1055/s-2008-1052394
DOI: 10.1055/s-2008-1052394
Giant Axonal Disease: Report of Three Cases and Review of the Literature
Further Information
Publication History
Publication Date:
19 March 2008 (online)
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.
Key words
Giant axonal neuropathy - Intermediate filaments - Computed tomography