Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster

Figures & data

Table 1. Comparison of age at onset and sex in the study cohort. Results are expressed as means (SD) unless otherwise stated.

	Parents (n = 27)	Offsprings (n = 37)	p Value
AO	55 (18)	39 (12)	<.001
Females (%)	41.3	43.2	NS
AO (females)	59 (19)	40 (15)	.006
AO (males)	52 (16)	38 (11)	.003

AO: age at onset; NS: not significant (p > .05).

Table 2. Parent-of-origin effect in anticipation age.

	Sex parent
	Men	Female
Sex offspring
Men	n = 12 (11)	n = 9 (8)
	AC = 17 (13)	AC = 23 (15)
Female	n = 6 (4)	n = 10 (8)
	AC = 7 (5)	AC = 26 (16)

Total samples size (sample size of pairs with anticipation) are reported. Results are expressed in mean (SD) anticipation age. AC: Anticipation.

Table 3. Anticipation according to age at onset of parents and offsprings.

AO	Number of pairs	AC mean (SD)	AC range	p Value
Parent early	12	9 (6)	1–25
Parent late	19	26 (15)	3–53	<.01
Offspring early	26	21 (15)	1–53
Offspring late	5	13 (9)	4–27	NS

AC: anticipation; AO: age at onset; NS: not significant; SD: standard deviation. Early: <50 years. Late: >50 years.

Table 4. Differences in anticipation according to disease onset in parent-offspring pairs.

Parent AO–Offspring AO	Number of pairs	AC mean (SD)	AC range	p Value
Early–Early	13	9 (6)	1–14
Late–Early	13	33 (12)	16–53	<.01
Early–Late	0	NA	NA	NA
Late–Late	5	13 (9)	4–27	NA

AC: anticipation; AO: age at onset; NA: not applicable; SD: standard deviation; Early: <50 years. Late: >50 years.