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Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins


, : Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins. Journal of Internal Medicine 256(5): 453-456

Background. Familial amyloidotic polyneuropathy (FAP) is caused by mutated transthyretin in which valine at position 30 is substituted by methionine (ATTR Val30Met). FAP is inherited as an autosomal dominant trait with variable penetrance. Cases. Two pairs of DNA confirmed monozygotic twin brothers, 63 and 37 years of age respectively, who are heterozygous for the ATTR Val30Met gene, have been identified in Sweden. In the first twin pair (A), the onset of typical FAP symptoms occurred at the age of 48 for twin A1, whilst his twin brother (A2) is still free from FAP symptoms 13 years later. In the second pair of twins (B), the onset of polyneuropathy occurred at the age of 34 for the proband (B1), whilst his brother (B2) is healthy 3 years after the onset of his brother's disease. Discussion. In the following, a detailed description of the clinical presentation of the Swedish twin pairs is provided together with a discussion of possible environmental factors initiating the onset of the disease.

US$19.90

PMID: 15485482

DOI: 10.1111/j.1365-2796.2004.01399.x


Other references

Arribas Castrillo, J.M., 1991: Apolipoproteins and atherosclerosis. Anales de Medicina Interna 8(7): 317-319

Bacon G.E.; Bacon P.J.; Griffiths R.K., 1980: Orientation of apatite crystals in relation to muscle attachment in the mandible. High-intensity neutron beams provide a quantitative measurement of the orientation of the c-axis of the apatite crystals in bones, and the preferred direction can be identified with the direction of pull of attached muscles. An examination at 7 si...

Adams, J.; Law, O.T.omas, 1962: Brain mechanisms in sequential sexual behavior in male rats. Amer Psychol 17(9): 601

Vargas, Aés.; Montironi, C.; Buxó, E., 2016: Organizing pneumonia with fatal outcome after adjuvant chemotherapy with FOLFOX. Archivos de Bronconeumologia 51(11): 610-610

Sorensen K.J., 1982: Porcine parvovirus serological examination in pig breeding herds and artificial insemination boar centers. Porcine parvovirus (PPV) is known to be disseminated world wide in pig herds. Only a few reports are concerned about the prevalence of PPV infection among breeding animals within individual pig breeding herds. In the present work 1858 sows and boa...

Shennak M.M.; Beiruti M.A.; Ghawi S.S., 1990: Double blind comparison of loperamide and placebo against acute diarrhea in adults. In a randomized double-blind study involving 93 adult patients, loperamide significantly reduced the number of loose stools and the time until the first solid stool, but there was no significant effect on fluid requirements. Side-effects were limi...

Hess Frank L., 1910: Gypsum deposits near Cane Springs, Kern County, California. U: ological Survey Bulletin. Pages 417-418. 1910.

Bullivant, JS.; McCann, C., 1974: Fishes from Manihiki Atoll. Memoirs N.Z. oceanogr. Inst, 31, 49-60

Randolph, V.B.; Kandis, M.; Stemler Higgins, P.; Kennelly, M.S.; Mcmullen, Y.M.; Speelman, D.J.; Weeks Levy, C., 1994: Attenuated temperature-sensitive respiratory syncytial virus mutants generated by cold adaptation. Two strains of respiratory syncytial virus (RSV), RSV 2B and RSV 3A (representing subgroup B and A virus respectively) were cold-adapted by passaging in Vero cells for up to 42 weeks at successively lower temperatures down to 20 degree C. Successf...

Silverstein, R.L.; Baird, M.; Lo, S.K.; Yesner, L.M., 1992: Sense and antisense cDNA transfection of CD36 (glycoprotein IV) in melanoma cells. Role of CD36 as a thrombospondin receptor. Thrombospondin (TSP) is a multifunctional matrix and platelet glycoprotein that interacts with cell surfaces and may play a role in mediating cell adhesion, platelet aggregation, platelet-monocyte interactions, cell proliferation, angiogenesis, tu...