title: Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.
abstract: Giant axonal neuropathy is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. We describe four patients belonging to a consanguineous Algerian family with late onset (6-10 years) slowly progressive autosomal recessive giant axonal neuropathy. The propositus presented with a Charcot-Marie-Tooth 2-like phenotype with foot deformity, distal amyotrophy of lower limbs, areflexia and distal lower limb hypoesthesia. Central nervous system involvement occurred 10 years later with mild cerebellar dysarthria and nystagmus in the propositus and 16 years after onset, a spastic paraplegia in the oldest patient. The two youngest patients (13 and 8 years old) do not present any signs of central nervous involvement. Magnetic resonance imaging showed cerebellar atrophy in the two older. Nerve biopsy showed moderate axonal loss with several giant axons filled with neurofilaments. Genetic study established a linkage to chromosome 16q locus. This clinical presentation differs from the classical form of giant axonal neuropathy.
authors.affiliation: Service de Neurologie, CHU Mustapha, Alger Centre, Alger 16000, Algeria.
authors.forename: R
authors.initials: R
authors.lastname: Zemmouri
authors.forename: H
authors.initials: H
authors.lastname: Azzedine
authors.forename: S
authors.initials: S
authors.lastname: Assami
authors.forename: N
authors.initials: N
authors.lastname: Kitouni
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: T
authors.initials: T
authors.lastname: Maisonobe
authors.forename: T
authors.initials: T
authors.lastname: Hamadouche
authors.forename: M
authors.initials: M
authors.lastname: Kessaci
authors.forename: B
authors.initials: B
authors.lastname: Mansouri
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: D
authors.initials: D
authors.lastname: Grid
authors.forename: M
authors.initials: M
authors.lastname: Tazir
mesh_terms: D000293:Adolescent; D000328:Adult; D000462:Algeria; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001369:Axons / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology