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

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 rece...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2000-12, Vol.10 (8), p.592-598
Main Authors: Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J.M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Algeria
Atrophy - genetics
Atrophy - pathology
Atrophy - physiopathology
Axons - pathology
Cerebral Cortex - pathology
Cerebral Cortex - physiopathology
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
Charcot-Marie-Tooth Disease - physiopathology
Child
Chromosome Mapping
Female
Giant axonal neuropathy
Humans
Locus 16q
Magnetic Resonance Imaging
Male
Pedigree
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - pathology
Peripheral Nervous System Diseases - physiopathology
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(00)00141-3