Peripheral neuropathies of young children

Revue Neurologique

Volumn 160, Issue 12, 2004, Pages 1216-1220

  Ouvrier, R ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b NONE   (Australia)

Author keywords

Autosomal recessive; Childhood; Nerve biopsy; Neuropathies

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHILDHOOD DISEASE; CLINICAL FEATURE; CONFERENCE PAPER; DEMYELINATING NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE BIOPSY; NEUROPATHY; ONCOGENE C MYB; PERIPHERAL NEUROPATHY; SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE;

EID: 11144241815     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0035-3787(04)71171-6     Document Type: Conference Paper

References (17)

1. ANDERMANN E. (1981) Familial agenesis of the corpus callosum with sensorimotor neuronopathy. In: Myrianthopoulos NC (ed.) Handbook of Clinical Neurology, Vol. 42 Neurogenetic Directory, Part I. Amsterdam: Elsevier, pp. 100-103.
2. ANTONELLIS A, ELLSWORTH RE, SAMBUGGHIN N et al. (2003). Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet, 72: 1293-1299.
3. DE JONGHE P, MERSIYANOVA I, NELIS E et al. (2001). Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol, 49: 245-249.
4. DE SANDRE-GIOVANNOLI A, CHAOUCH M, KOZLOV S et al. (2002). Homozygous defects in LMNA, encoding Lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet, 70: 726-736.
5. GABREËLS-FESTEN AAWM, JOOSTEN EMG, GABREËLS F et al. (1991). Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. Brain, 114: 1855-1870.
6. GEORGIOU D-M, ZIDAY J, KOROSEC M et al. (2002). A novel NF-L mutation pro22-to-ser is associated with CMT2 in a large Slovenian family. Neurogenet, 4: 93-96.
7. GROHMANN K, SCHUELKE M, DIERS A et al. (2001). Mutations in the gene encoding immunoglobulin μ-binding protein cause spinal muscular atrophy with respiratory distress type 1. Nature Genet, 29: 75-77.
8. HOWARD HC, MOUNT DB, ROCHEFORT D et al. (2002). The K-CL cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genet, 32: 384-392.
9. ISMAILOV SM, FEDOTOV VP, DADALI EL et al. (2001). A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ J Hum Genet, 9: 646-650.
10. NELIS E, ERDEM S, VAN DEN BERGH PYK et al. (2002). Mutations in GDAP1. Autosomal recessive CMT with demyelination and axonopathy. Neurology, 59: 1865-1872.
11. OUVRIER RA, MCLEOD JG, MORGAN GJ, WISE GA, CONCHIN TE. (1981). Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neural Sci, 51: 181-197.
12. TAKASHIMA H, NAKAGAWA M, NAKAHARA K, et al. (1997). A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol, 41: 771-780.
13. TAZIR M, AZZEDINE H, ASSAMI S et al. (2004). Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in Lamin A/C. Brain, 127: 154-163.
14. VERHOEVEN K, DE JONGHE P, COEN K, et al. (2003). Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet, 72: 722-727.
15. WILMSHURST JM, BYE AM, ADAMS C et al. (2000). Severe infantile axonal neuropathy with respiratory failure. Muscle Nerve, 24: 760-768.
16. WILMSHURST JM, POLLARD JD, NICHOLSON G, ANTONY J, OUVRIER R. (2002). Peripheral neuropathies of infancy. Devel Med Child Neurol, 25: 408-414.
17. ZHAO C, TAKITA J, TANAKA Y et al. (2001). Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B beta. Cell, 105: 587-597.