2026-05-17T05:46:38Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/230412024-11-29T04:37:25Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Cisneros-Barroso, Eugenia author González-Moreno, Juan author Rodríguez, Adrián author Ripoll-Vera, Tomás author Álvarez-Rubio, Jorge author Uson Martin, Mercedes author Figuerola, Antoni author Descals, Cristina author Montala, Cartes author Ferrer-Nadal, Maria Asunción author Losada-López, Inés author 2020-10-01 Background: Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in age at onset (AO) within each generation. Our aim was to study AC in a large number of ATTRV30M kindred from Majorca (Spain), and gain further insight into parent-of-origin effects. Methods: In a cohort of 262 subjects with ATTRV30M amyloidosis belonging to 51 families, we found 37 affected pairs. AO is defined as the age at the first symptom and AC (parent's age at disease onset minus that of the offspring) were calculated. Chi-square test, independentt-test and pairedt-test were used for comparisons between groups. Association between AO of parents and offsprings were assessed by Pearson's correlation coefficient. Results: Offspring mean AO was 16 years lower than that of the parents (p < .001) regardless of the sex of the parents and the offspring. AC occurred in 31 out of the 37 pairs, with no differences related to the sex of parents or offspring. There was a moderate correlation (r = 0.49;p < .001) between AO of the parents and that of the offsprings. Conclusion: AC was no uncommon in our cohort, and AO tended to decrease in successive generations. Cisneros-Barroso Eugenia, Gonzalez Moreno Juan, Rodriguez Adrian, Ripoll-Vera Tomas, Alvarez Rubio Jorge, Uson Martin Mercedes, et al. Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster. Amyloid-J Protein Fold Disord. 2020 Oct 01;27(4):254-258. Epub 2020 Jul 7. 10.1080/13506129.2020.1789580 1744-2818 1350-6129 Amyloid-Journal of Protein Folding Disorders http://hdl.handle.net/20.500.13003/10121 32633140 L2005515888 2-s2.0-85087758556 https://hdl.handle.net/20.500.12105/23041 547467100001 Transthyretin Amyloidosis Anticipation Age at onset Genetics Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster