title: Giant axonal neuropathy: observations on a further patient.
abstract: A further child with giant axonal neuropathy (GAN), abnormally curly hair and consanguineous parents is described. Of the 19 patients with GAN so far reported in the literature, six, including the present patient, have resulted from consanguineous marriages. This makes autosomal recessive inheritance of GAN highly probable. Our patient also exhibited cerebellar ataxia and signs of pyramidal tract damage; magnetic resonance brain imaging demonstrated abnormalities within the cerebellar and cerebral white matter. Myelinated nerve fibre density in the sural nerve was reduced to 6790/mm2 at age 8 years and had fallen to 3812/mm2 16 months later, indicating that progressive axonal loss occurs in GAN.
authors.affiliation: Department of Neurological Science, Royal Free Hospital School of Medicine, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Donaghy
authors.forename: E M
authors.initials: EM
authors.lastname: Brett
authors.forename: I E
authors.initials: IE
authors.lastname: Ormerod
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D001706:Biopsy; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D003599:Cytoskeleton / Q000648:ultrastructure*; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure*; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology