title: Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.
abstract: We describe a large kindred of 6 patients with a slowly progressive autosomal recessive form of giant axonal neuropathy (GAN). The propositus presented with progressive infantile onset of distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs. The EMG and nerve biopsy showed typical hypertrophic neuritis. In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity. In the youngest boy, the neurologic deficit was less severe, and the nerve biopsy revealed only a few unmyelinated axons filled with neurofilaments. These cases appear to represent a different genetic defect from other reported cases of GAN.
authors.affiliation: Institut National de Neurologie, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Ben Hamida
authors.forename: F
authors.initials: F
authors.lastname: Hentati
authors.forename: C
authors.initials: C
authors.lastname: Ben Hamida
mesh_terms: D000328:Adult; D001369:Axons / Q000648:ultrastructure*; D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000648:ultrastructure*; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology