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Case Reports
. 2002 Apr 23;58(8):1273-6.
doi: 10.1212/wnl.58.8.1273.

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

G Kuhlenbäumer  1 , P Young, C Oberwittler, G Hünermund, A Schirmacher, K Domschke, B Ringelstein, F Stögbauer
Affiliations
Case Reports

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

G Kuhlenbäumer et al. Neurology. .

Erratum in

  • Neurology 2002 May 14;58(9):1444

Abstract

Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder clinically characterized by a severe polyneuropathy, CNS abnormalities, and characteristic tightly curled hair. Recently, mutations in the gigaxonin gene have been identified as the underlying genetic defect. The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.

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