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Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23.

Phenotypic variability in giant axonal neuropathy.

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Laboratoire de Recherche de Neurosciences, Université d'Alger, Service de Neurologie, Centre Hospitalier Universitaire Mustapha, 1 place du 1er Mai, Algiers 16000, Algeria.


Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal functions and dynamics. In the majority of the GAN series reported to date, patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair and early onset CNS involvement including cerebellar and pyramidal signs. We present 12 patients (6 families) with GAN mutations and different clinical phenotypes. Four families were harbouring an identical homozygous nonsense mutation but with different severe clinical phenotypes, one patient had a novel missense homozygous mutation with a peculiar moderate phenotype and prominent skeletal deformations. The last family (4 patients) harbouring a homozygous missense mutation had the mildest form of the disease. In contrast with recent reported series of patients with typical GAN clinical features, the present series demonstrate obvious clinical heterogeneity.

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