Table 2.
Clinical Characteristics of FALS with differing etiologies
| Overall | Point mutation carriersb |
p- valuec |
C9ORF72 expansion carriers |
p- valuec |
Unknown genetic cause |
|
|---|---|---|---|---|---|---|
| Number of probands | 51 | 13 | 22 | 16 | ||
| Sex, % male (n) | 49 (25) | 46 (6) | 1.0 | 50 (11) | 1.0 | 50 (8) |
| Mean age of onset, years ± SD | 56.3 ± 13.0 | 47.4 ± 14.2 | 0.0083 | 59.7 ±11.6 | 0.83 | 58.9 ± 11.1 |
| Bulbar onset, % (n) | 31.4 (16) | 0.0 (0) | 0.0009 | 54.5 (12) | 0.1 | 25.0 (4) |
| Dementia, % (n) | 19.6 (10) | 0.0 (0) | 0.0131 | 40.9 (9) | 0.025 | 6.3 (1) |
| Family history dementia, % (n)a | 26.1 (12) | 7.7 (1) | 0.011 | 52.6 (10) | 0.009 | 7.1 (1) |
| Mean duration, months±SD (n) | 26.5 ± 16.7 (17) | 14.0 ± 4.1 (4) | 0.144 | 28 ± 16.2 (4) | 0.763 | 31.3 ± 18.6 (9) |
a
Calculations reflect missing family data for 3 expansion carriers and 2 without known genetic cause.
b
Point mutation carriers included 8 with SOD1, 3 with TARDBP, and 2 with FUS mutations.
c
The p-value column refers to comparison of the two columns on either side of it. Differences meeting statistical significance are italicized.
Abbreviations: SD=standard deviation