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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Phenotypic variability in giant axonal neuropathy
Neuromuscular Disorders, Volume 19, No. 4, Year 2009
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Description
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. © 2009 Elsevier B.V. All rights reserved.
Authors & Co-Authors
Tazir, Mériem
Algeria, Algiers
Université D’alger 1
Nouioua, Sonia
Algeria, Algiers
Université D’alger 1
Magy, Laurent
France, Limoges
Chu de Limoges
Huehne, Kathrin
Germany, Erlangen
Universitätsklinikum Erlangen
Assami, Salima
Algeria, Algiers
Université D’alger 1
Urtizberea, Jean Andoni M.
France, Marin
Hôpital Marin
Grid, Djamel
France, Evry
Généthon
Hamadouche, Tarik
Algeria, Boumerdes
Université de Boumerdes
Rautenstrauss, Bernd
Germany, Munich
Medizinisch Genetisches Zentrum
Vallat, Jean Michel
France, Limoges
Chu de Limoges
Statistics
Citations: 48
Authors: 10
Affiliations: 7
Identifiers
Doi:
10.1016/j.nmd.2009.01.011
ISSN:
09608966
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health