Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

Autor: Hamida, Mongi Ben, Hentati, Fayçal, Hamida, Christiane Ben, PhD
Zdroj: Neurology (Ovid); February 1990, Vol. 40 Issue: 2 p245-250, 6p
Abstrakt: 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 hypertrophie 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.
Databáze: Supplemental Index