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

Neuromuscular Disorders

Volumn 10, Issue 8, 2000, Pages 592-598

  Zemmouri, R ^a   Azzedine, H ^b,c   Assami, S ^a   Kitouni, N ^d   Vallat, J M ^e   Maisonobe, T ^f   Hamadouche, T ^b   Kessaci, M ^a   Mansouri, B ^a   Le Guern, E ^c   Grid, D ^g   Tazir, M ^a  

^a CHU Mustapha   (Algeria)

^b Institut Pasteur d'Algerie   (Algeria)

^c INSERM   (France)

^d Service de Neurologie   (Algeria)

^e LIMOGES UNIVERSITY HOSPITAL   (France)

^f Lab Neuropathologie R Escourolle   (France)

^g GÉNÉTHON   (France)

Author keywords

Giant axonal neuropathy; Locus 16q

Indexed keywords

ALGERIA; AREFLEXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 16Q; CLINICAL FEATURE; CONSANGUINITY; DYSARTHRIA; FEMALE; FOOT MALFORMATION; GENETIC ANALYSIS; GIANT AXON; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPESTHESIA; MALE; MUSCLE ATROPHY; NERVE BIOPSY; NEUROFILAMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PARAPLEGIA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALGERIA; ATROPHY; AXONS; CEREBRAL CORTEX; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOME MAPPING; FEMALE; HUMAN; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; SUPPORT, NON-U.S. GOV'T;

EID: 0033792597     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00141-3     Document Type: Article

References (22)

1. Giant axonal neuropathy: A unique case with segmental neurofilamentous masses
2. Giant axonal neuropathy
3. Giant axonal neuropathy: A clinical entity affecting the central nervous system as the peripheral nervous system
4. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
5. Localisation of the giant axonal neuropathy gene to chromosome 16q24
6. A comprehensive genetic map of the human genome based on 5264 microsatellites
7. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3
8. Avoiding recomputation in genetic linkage analysis
9. Crossover counts and likehood linkage analysis
10. Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder
11. Giant axonal neuropathy. A review
12. Giant axonal neuropathy: Involvement of peripheral nerve, mesenteric and extra neuronal area
13. Giant axonal neuropathy: Normal protein composition of neurofilaments
14. Childhood giant axonal neuropathy: Case report and review of the literature
15. Giant axonal neuropathy: Predominant central system manifestation
16. Giant axonal neuropathy: Progressive clinical and radiologic CNS involvement
17. Giant axonal neuropathy with subclinical involvement of the central nervous system: Case report
18. Neuropathie a axones geants: Maladie des filaments intermediaires avec atteinte du systeme nerveux peripherique and central
19. Giant axonal neuropathy: Correlation of clinical findings with post mortem neuropathology
20. Clinical progressive of giant axonal neuropathy of 12 year period
21. Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred
22. Giant axonal neuropathy in 2 siblings a generalized disorder of intermediate filaments