• Eugenia Cisneros-Barroso, Juan González-Moreno, Adrian Rodríguez, Tomas Ripoll-Vera, Jorge Álvarez, Mercedes Usón, Antonio Figuerola, Cristina Descals, Carles Montalá, Maria Asunción Ferrer-Nadal, and Ines Losada.
• Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain.
• Amyloid. 2020 Dec 1; 27 (4): 254-258.

BackgroundHereditary 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.MethodsIn 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, independent t-test and paired t-test were used for comparisons between groups. Association between AO of parents and offsprings were assessed by Pearson's correlation coefficient.ResultsOffspring 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.ConclusionAC was no uncommon in our cohort, and AO tended to decrease in successive generations.

23 keywords...

hide…