Table 1.
Cohort demographics and clinical characteristics
| Cross-sectional cohort | ||
|---|---|---|
| Control | FRDA | |
| Number of subjects | 20 (11M/9F) | 28 (14M/14F) |
| Age (years) | 20.4 (7.1) | 19.0 (7.3) |
| Age of onset (years) | - | 13.4 (5.2) |
| Disease duration (years) | - | 5.5 (4.0) |
| Time from diagnosis (years) | - | 2.3 (2.6) |
| GAA repeats (shorter)a | - | 597 (179) |
| GAA repeats (longer) | - | 959 (205) |
| SARA (0–40)b | 0 (0) | 8.9 (2.8) |
| FARS total neuro (0–117) | 0 (0) | 42.7 (13.6) |
| Functional staging (0–6) | 0 (0) | 2.0 (1.0) |
| ADL (0–36) | 0 (0) | 5.8 (3.5) |
| 9HPT dominant (s) | 19.2 (2.8) | 40.4 (12.0) |
| 9HPT non-dominant (s) | 19.2 (2.4) | 43.4 (13.0) |
| Timed walk (s)c | 4.3 (0.6) | 9.4 (19.1) |
| Longitudinal cohort (FRDA only) | ||||
|---|---|---|---|---|
| Baseline | 1-year follow-up | 2-year follow-up | 3-year follow-up | |
| Number of subjects | 21 (10M/11F) | 21 (10M/11F) | 19 (9M/10F) | 14 (5M/9F) |
| Age (years) | 19.0 (7.7) | 20.1 (7.7) | 21.5 (8.0) | 24.5 (8.9) |
| Age of onset (years) | 13.8 (5.8) | 13.8 (5.8) | 14.1 (6.0) | 15.4 (5.5) |
| Disease duration (years) | 5.1 (3.9) | 6.3 (3.9) | 7.4 (4.2) | 9.1 (5.2) |
| Time from diagnosis (years) | 2.1 (2.9) | 3.2 (2.9) | 4.2 (3.0) | 5.6 (3.7) |
| GAA repeats (shorter)a | 598 (191) | 598 (191) | 596 (200) | 560.4 (170.2) |
| GAA repeats (longer) | 987 (221) | 987 (221) | 960 (197) | 933.5 (186.5) |
| SARA (0–40)b | 9.6 (2.8) | 11.6 (4.5) | 13.8 (5.2) | 15.4 (6.3) |
| FARS total neuro (0–117) | 42.6 (11.8) | 48.7 (13.3) | 53.9 (14.5) | 56.8 (17.4) |
| Functional staging (0–6) | 1.9 (1.0) | 2.5 (1.1) | 2.8 (1.0) | 3.0 (1.2) |
| ADL (0–36) | 5.4 (2.9) | 8.0 (3.6) | 9.9 (4.0) | 11.7 (4.4) |
| 9HPT dominant (s) | 38.8 (9.8) | 41.0 (11.2) | 41.5 (10.7) | 45.8 (12.2) |
| 9HPT non-dominant (s) | 43.1 (11.2) | 47.8 (13.0) | 50.2 (10.7) | 55.3 (18.1) |
| Timed walk (s)c | 5.8 (0.9) | 5.8 (1.4) | 6.0 (1.5) | 6.4 (1.2) |
| Time from baseline (months) | 0 | 13.7 (2.2) | 26.8 (3.4) | 45.2 (6.5) |
Data are presented as mean (standard deviation).
a
The shorter GAA length of an FRDA participant was not included due to a point mutation in one of the alleles.
b
SARA score at baseline was not recorded for 15 of the 28 FRDA participants (including 10 out of 21 in the longitudinal FRDA cohort) due to SARA score being added later in the study.
c
Two outliers were excluded: one participant had no value because they could not walk while another completed the walk in 105 s.