Table 1 Cohort overview for individuals included in the primary analysis of blood long-read sequencing data. We included samples from a total of 27 individuals, including 16 symptomatic individuals and 11 pre-symptomatic individuals. Out of 27 individuals, 16 were female. Percentages are shown in parentheses for diagnoses and sex. The median values are shown for age at collection, age at onset, repeat length, and promoter methylation and the interquartile range (IQR) is displayed in parentheses. We obtained longitudinal specimens from 6 individuals, corresponding to 13 unique time points
From: Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion
Variable | Subjects (n = 27) |
|---|---|
ALS, n (%) | 15 (55.56) |
FTD, n (%) | 1 (3.70) |
Pre-symptomatic, n (%) | 11 (40.74) |
Sex, n (% female) | 16 (59.26) |
Age at collection, median (IQR) | 57.19 (43.33–64.11) |
Age at onset (ALS), median (IQR) | 61.42 (57.17–65.39) |
Repeat length, median (IQR) | 18.53 (8.31–23.32) |
Promoter methylation, median (IQR) | 1.93 (0.90–11.92) |