Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

Giant axonal neuropathy is a rare autosomal recessive childhood disorder ch aracterized by a peripheral neuropathy and features of central nervous syst em involvement. We describe four patients belonging to a consanguineous Alg erian family with late onset (6-10 years) slowly progressive autosomal rece ssive giant axonal neuropathy. The propositus presented with a Charcot-Mari e-Tooth 2-like phenotype with foot deformity, distal amyotrophy of lower li mbs, areflexia and distal lower limb hypoesthesia. Central nervous system i nvolvement occurred 10 years later with mild cerebellar dysarthria and nyst agmus in the propositus and 16 years after onset, a spastic paraplegia in t he oldest patient. The two youngest patients (13 and 8 years old) do not pr esent any signs of central nervous involvement. Magnetic resonance imaging showed cerebellar atrophy in the two older. Nerve biopsy showed moderate ax onal loss with several giant axons filled with neurofilaments. Genetic stud y established a linkage to chromosome 16q locus. This clinical presentation differs from the classical form of giant axonal neuropathy. (C) 2000 Elsev ier Science B.V. All rights reserved.