A large family with Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus

International Journal of Neuroscience

Volumn 116, Issue 2, 2006, Pages 103-114

  Koç, Filiz ^a   Sarica, Yakup ^a   Yerdelen, Deniz ^a   Baris, Ibrahim ^b   Battaloǧlu, Esra ^b   Sert, Murat ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

Author keywords

Charcot Marie Tooth disease Type 1A; Duplication at chromosome 17p11.2; Type 2 diabetes mellitus

Indexed keywords

ARTICLE; CHARCOT MARIE TOOTH TYPE 1A; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL SOCIETY; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE;

ADULT; AGED; AGED, 80 AND OVER; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; DIABETES MELLITUS, TYPE 2; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENE DUPLICATION; HUMANS; MALE; MIDDLE AGED; MYELIN PROTEINS; PEDIGREE;

EID: 30344431802     PISSN: 00207454     EISSN: 15635279     Source Type: Journal    
DOI: 10.1080/00207450500341431     Document Type: Article

References (26)

1. Auer-Grumbach, M., Wagner, K., Strasser-Fuchs, S., Loscher, W. N., Fazekas, F., Millner, M., Hartung, H. P., & Nicholson, G. A. (2000). Clinical predominance of proximal upper limb weakness in CMT1A syndrome. Muscle & Nerve, 23(8), 1243-1249.
2. Berciano, J., Garcia, A., & Combarros, O. (2003). Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication. Muscle & Nerve, 27(1), 34-39.
3. Çelik, M., Forta, H., Parman, Y., Bissar- Tadmourit, N., Demirkiran, K., & Battaloglu, E. (2001). Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus. Diabetic Medicine, 18(8), 685-686.
4. Dematteis, M., Pepin, J. L., Jeanmart, M., Deschaux, C., Labarre-Vila, A., & Levy, P. (2001). Charcot-Marie-Tooth disease and sleep apnoea syndrome: A family study. Lancet, 357 (9252), 267-272.
5. Dyck, P. J., Chance, P., Lebo, R., & Carney, J. A. (1993). Hereditary motor and sensoiy neuropathies. In P. J. Dyck, P. K. Thomas, J. W. Griffin, et al. (Eds.), Peripheral neuropathy, 3rd ed. (pp. 1094-1136). Philadelphia:WB Saunders.
6. Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001). Molecular mechanism and clinical pathophysiology of maturity - onset diabetes of young. New England Journal of Medicine, 345(13), 971-980.
7. Gokcel, A., Baltali, M., Tarim, E., Bagis, T., Gümürdü lü, Y., Karakose, H., Yalcin, F., Akbaba, M., & Guvener, N. (2003). Detection of insulin resistance in Turkish adults: A hospital-based study. Diabetes Obesity and Metabolism, 5(2), 126-130.
8. Hoogendijk, J. E., Hensels, G. W., Gabreels-Festen, A. A., Gabreels, F. J., Janssen, E. A., de Jonghe, P., Martin, J. J., van Broeckhoven, C., Valentijn, L. J., & Baas F. (1992). De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet, 339(8801), 1081-1082.
9. Kahn, C. R. (1994). Insulin action, diabetogenes and the causes of type two diabetes. Diabetes, 45(8), 1066-1084.
10. Kalm, C. R., Vicent, D., & Doria, A. (1996). Genetics of non- insulin-dependent (type 2) diabetes mellitus. Annual Review of Medicine, 47, 507-531.
11. Kovach, M. J., Campbell, K. C., Herman, K., Waggoner, B., Gelber, D., Hughes, L. F., & Kimonis, V. E. (2002). Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: Delineation of the clinical features and review of the literature. American Journal Medical Genetics, 108(4), 295-303.
12. Latour, P., Boutrand, L., Levy, N., Bernard, R., Boyer, A., Claustrat, F., Chazot, G., Boucherat, M., & Vandenberg, A. (2001). Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication. Clinical Chemistry, 47(5), 829-837.
13. Lupski, J. R., de Oca-Luna, R. M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., & Garcia, C. A. (1991). DNA Duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 66(2), 219-232.
14. Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., & Patel, P. I. (1992). Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genetics, 1(1), 29-33.
15. Lupski, J. R., Pentao, L., Williams, L. L., & Patel, P. I. (1993). Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. American Journal Medical Genetic, 45(1), 92-96.
16. Mostacciuolo, M. L., Schiavon, F., Angelini, C., Miccoli, B., Piccolo, F., & Danieli, G. A. (1995). Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. Neuroepidemiology, 14(2), 49-53.
17. Pareyson, D. (1999). Charcot-Marie-Tooth Disease and related neuropathies: Molecular basis for distintion and diagnosis. Muscle & Nerve, 22(11), 1498-1509.
18. Rabasa-Lhoret, R., Bastard, J. P., Jan, V., Ducluzeau, P. H., Andreelli, F., & Guebre, F. (2003). Modified Quantitative Insulin Sensitivity Check index is beter correlated to hyperinsulinemic glucose clamp than other fasting-based index of insulin sensitivity in different insulin-resistant states. Journal of Clinical Endocrinology and Metabolism, 88(10), 4917-4923.
19. Stern, M. P. (2002). The search for type 2 diabetes susceptibility genes using whole-genome scans: An epidemiolologist's perpective. Diabetes Metabolism Research and Reviews, 18(2), 106-113.
20. The DECODE study group on behalf of the European Diabetes Epidemiology group. (1999). Glucose tolerance and mortality: Comparison of WHO and American Diabetes Association diagnostic criteria. The DECODE study group. European Diabetes Epidemiology Group. Diabetes epidemiology: Collaborative analysis of diagnostic criteria in Europe. Lancet, 354(9179), 617-621.
21. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. (1997). Diabetes Care, 20(7), 1183-1197.
22. Thomas, P. K., Marques, W, Jr., Davis, M. B., Sweeney, M. G., King, R. H., Bradley, J. L., Muddle, J. R., Tyson, J., Malcolm, S., & Harding, A. E. (1997). The phenotypic manifestations of chromosome 17p11.2 duplication. Brain, 120(Pt 3), 463-478.
23. Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den, Bosch, N. H., Zorn, I., Gabreels-Festen, A. W., de Visser, M., & Bolhuis, P. A. (1992). Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genetics, 2(4), 288-291.
24. Valentijn, L. J., Bolhuis, P. A., Zom, I., Hoogendijk, J. E., van den, Bosch, N., Hensels, G.W., Stanton, V. P. Jr., Housman, D. E., Fischbeck, K. H., & Ross, D. A. (1992). The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genetics, 1(3), 166-170.
25. Vance, J. M. (2000). Many faces of Charcot-Marie-Tooth Disease. Archives of Neurology, 57 (5), 638-640.
26. Velho, G., & Robert, J. J. (2002). Maturity-onset diabetes of the young (MODY): Genetic and clinical characteristics. Hormone Research, 57(Suppl 1), 29-33.