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| |
Patients (N = 141)
|
Relatives (N = 69)
|
|---|
|
N
|
%
|
N
|
%
|
|---|
|
Socio-demographic characteristics
|
|
Gender
|
|
Males
|
106
|
75.2
|
15
|
21.7
|
|
Females
|
35
|
24.8
|
54
|
78.3
|
|
Age, mean ± SD
|
66.1 ± 11.09
| |
57.2 ± 11.8
| |
|
Marital status
|
|
Free
|
34
|
25.2
|
9
|
10.5
|
|
Married
|
101
|
74.8
|
60
|
89.6
|
|
Education
|
|
Primary school
|
18
|
14.3
|
10
|
14.7
|
|
Secondary school
|
42
|
33.3
|
14
|
20.6
|
|
High school
|
44
|
34.9
|
32
|
47.1
|
|
University
|
22
|
17.5
|
12
|
17.7
|
|
Employed, yes
|
41
|
29.5
|
32
|
47.1
|
|
Relationship with the patient
|
–
| | | |
|
Spouse
| | |
51
|
75.0
|
|
Other
| | |
17
|
25.0
|
|
Daily hours spent in caregiving, mean ± SD
|
–
| |
8.1 ± 9.7
| |
|
Clinical variables
|
|
Mutation
|
|
Val30Met
|
39
|
27.6
| | |
|
Phe64Leu
|
33
|
23.4
| | |
|
Glu89Gln
|
25
|
17.7
| | |
|
Ile68Leu
|
14
|
9.9
| | |
|
Val122Ile
|
7
|
5
| | |
|
Tyr78Phe
|
7
|
5
| | |
|
Thr49Ala
|
6
|
4.3
| | |
|
Other (n. 9)
|
10
|
7.1
| | |
|
Phenotype
| | |
–
| |
|
ATTRv-PN
|
111
|
78.7
| | |
|
ATTRv-CM
|
30
|
21.3
| | |
|
ATTRv stage
| | |
–
| |
|
0
|
6
|
4.3
| | |
|
1
|
75
|
53.2
| | |
|
2
|
42
|
29.8
| | |
|
3
|
18
|
12.8
| | |
|
Age at symptom onset, mean ± SD
|
59.8 ± 11.8
| |
–
| |
|
Length of symptom in years, mean ± SD
|
6.2 ± 4.2
| |
–
| |
- Mutation nomenclature follows the traditional classification which refers to the TTR protein (NCBI Reference Sequence: NP_000362.1; chromosome 18, NC_000018.10) without the first 20 amino acids of the leader peptide. For example, Val30Met corresponds to p.(Val50Met) if one follows the Human Genome Variation Society (HGVS) nomenclature (https://www.hgvs.org/content/guidelines)
