Axonal Charcot-Marie-Tooth disease: The fog is only slowly lifting

Neurology

Volumn 68, Issue 20, 2007, Pages 1649-1650

  Pareyson, Davide ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BERARDINELLI SEIP CONGENITAL LIPODYSTROPHY PROTEIN 2; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GENE PRODUCT; GLYCINE TRANSFER RNA LIGASE; HEAT SHOCK PROTEIN 22; HEAT SHOCK PROTEIN 27; LAMIN A; MITOFUSIN 2; MYELIN PROTEIN; NEUROFILAMENT PROTEIN; RAB7 PROTEIN; UNCLASSIFIED DRUG;

AREFLEXIA; EDITORIAL; ELECTROPHYSIOLOGY; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERREFLEXIA; MOLECULAR GENETICS; NERVE BIOPSY; NERVE FIBER; NERVE FIBER DEGENERATION; PATHOLOGICAL REFLEX; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SILVER RUSSELL SYNDROME; SKELETON MALFORMATION; SPASTIC PARAPLEGIA;

AXONS; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; GENETIC HETEROGENEITY; HUMANS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 34248583157     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000266399.43823.af     Document Type: Editorial

References (9)

1. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy (types I and II). Brain 1980;103:259-280.
2. Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med 2006;8:86-92.
3. Pareyson D, Scaioli V, Laurà M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolec Med 2006;8:3-22.
4. Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006;2:45-53.
5. Verhoeven K, Claeys KG, Züchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006;129:2093-2102.
6. Reilly MM. Axonal Charcot-Marie-Tooth disease. The fog is slowly lifting! Neurology 2005;65:186-187.
7. Bienfait HME, Baas F, Koelman JHTM, et al. Phenotype of Charcot-Marie-Tooth disease type 2. Neurology 2007;68:1658-1667.
8. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN-Spinal CMT). 26-28 September 1997, Naarden, The Netherlands. Neuromuscul Disord 1998;8:426-431.
9. Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 2005;57:415-424.