Charcot-Marie-Tooth familles in Japan with MPZ Thr124Met mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 10, 2004, Pages 1492-1494

  Kurihara, S ^a   Adachi, Y ^a   Imai, C ^a   Araki, H ^a   Hattori, N ^b   Numakura, C ^c   Lin, Y ^d   Hayasaka, K ^c   Sobue, G ^b   Nakashima, K ^e  

^a TOTTORI UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; MYELIN PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; DEMYELINATING DISEASE; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; JAPAN; MALE; MICROSATELLITE MARKER; PRIORITY JOURNAL;

ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; JAPAN; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MYELIN P0 PROTEIN; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 4644249384     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.020107     Document Type: Article

References (15)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
2. Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1993:1094-130.
3. Kirschner DA, Inoue H, Saavedra RA. Membrane adhesion in peripheral myelin: good and bad wraps with protein P0. Structure 1996;5:1239-44.
4. Marrosu MG, Vaccargiu S, Marrosu G, et al. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-401.
5. Pareyson D, Sghirlanzoni A, Botti S, et al. Charcot-Marie-Tooth disease type 2 and P0 gene mutations. Neurology 1999;52:1110-11.
6. Sendrek J, Hermanns B, Bergmann C, et al. X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin 32 mutations. J Neurol Sci 1999;167:90-101.
7. Silander K, Meretoja P, Pihko H, et al. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet 1997;100:391-7.
8. Misu K, Yoshihara T, Shikama Y, et al. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). J Neurol Neurosurg Psychiatry 2000;69:806-11.
9. Hanemann CO, Gabreels-Festen AAWM, DeJongue P. Axon damage in CMT due to mutation in myelin protein P0. Neuromusc Disord 2001;11:753-6.
10. Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-82.
11. DeJonghe P, Timmermen V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122:281-90.
12. Senderek J, Hermanns B, Lehmann U, et al. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Try119Cys) and a possible "hotspot" on Thr124Met. Brain Pathol 2000;10:235-48.
13. Kurihara S, Adachi Y, Wada K, et al. An epidemiological genetic study of Charcot-Marie-Tooth disease in western Japan. Neuroepidemiology 2002;21:246-50.
14. Anonymous. 2nd Workshop of the European CMT Consortium: 53rd ENMC. International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN) and distal hereditary motor neuropathy (distal HMN-spinal CMT) 26-28 September 1997, Naarden, Netherlands. Neuromusc Disord 1998;8:426-431.
15. Martini R, Zielasek J, Toyka KV, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995;11:281-6.