Symptomatic Charcot - Marie-Tooth? A pair of concordant monozygotic twins

Acta Neurologica Scandinavica

Volumn 114, Issue 6, 2006, Pages 403-406

  Braathen, G J ^a,b   Sand, J C ^a   Russell, M B ^a  

^a AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^b TELEMARK HOSPITAL   (Norway)

Author keywords

Charcot Marie Tooth disease; Environment; Genetics and occupation

Indexed keywords

CONNEXIN 32; LIPOPOLYSACCHARIDE INDUCED TUMOR NECROSIS FACTOR ALPHA FACTOR; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22; PERIPHERAL MYELIN PROTEIN ZERO; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOLECULAR GENETICS; MONOZYGOTIC TWINS; NEUROPHYSIOLOGY; SYMPTOMATOLOGY;

CHARCOT-MARIE-TOOTH DISEASE; DISEASES IN TWINS; HUMANS; MALE; MIDDLE AGED; OCCUPATIONAL DISEASES; OCCUPATIONAL EXPOSURE; POLYVINYL CHLORIDE; TWINS, MONOZYGOTIC;

EID: 33750623681     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2006.00713.x     Document Type: Article

References (12)

1. SKRE H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
2. DYCK PJ, LAMBERT EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I, neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18.
3. DYCK PJ, LAMBERT EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II, neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-25.
4. SHY ME, GARBERN JY, KAMHOLZ J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 2002;1:110-8.
5. PARMAN Y, BATTALOGLU E, BARIS I et al. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain 2004;127:2540-50.
6. SCHURER NY, SCHWANITZ HJ. Prevention and regeneration of barrier disturbances in occupational dermatology. J Dtsch Dermatol Ges 2004;2:895-904.
7. ANDERSEN KE. Occupational issues of allergic contact dermatitis. Int Arch Occup Environ Health 2003;76:347-50.
8. VIAENE MK, MASSCHELEIN R, LEENDERS J, DE GROOF M, SWERTS LJ, ROELS HA. Neurobehavioural effects of occupational exposure to cadmium: a cross sectional epidemiological study. Occup Environ Med 2000;57:19-27.
9. AMINOFF MJ. Effects of toxins and physical agents on the nervous system. In: Bradley WG, Daroff RB, Fenichel GM, Jancovic J, eds. Neurology in clinical practice. Philadelphia: Butterworth-Heinemann, 2004:1709-18.
10. PARMAR D, SRIVASTAVA SP, SETH PK. Studies on gamma-glutamyl transpeptidase (GGT) after di(2-ethylhexyl) phthalate (DEHP) exposure. J Appl Toxicol 1987;7:249-51.
11. JORDANOVA A, IROBI J, THOMAS FP et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006;38:197-202.
12. ZUCHNER S, NOUREDDINE M, KENNERSON M et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005;37:289-94.