Giant axonal disease: Report of eight cases.

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN. METHODS: Eight children with GAN were retrospectively analyzed. Five (62.5%) were girls and 3 (37.5%) were boys with...

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• Adolescent
• Axons
• Child
• Child, Preschool
• Consanguinity
• Cytoskeletal Proteins