Table 1 Clinical and genetic features of LD patients according to causative gene
Characteristics | EPM2A | NHLRC1 |
|---|---|---|
N | 109/250 (43.6%) | 141/250 (56.4%) |
Sex, male | 37/87 (42.5%) | 44/102 (43.1%) |
Sex, female | 50/87 (57.5%) | 58/102 (56.9%) |
Geographic origin | ||
European | 48/109 (44.0%) | 93/141 (66.0%) |
Asian | 33/109 (30.3%) | 36/141 (25.5%) |
American | 25/109 (22.9%) | 9/141 (6.4%) |
African | 3/109 (2.8%) | 3/141 (2.1%) |
Family history | ||
Number of families/cases | 87/109 | 121/141 |
Consanguinity | 44/109 (40.4%) | 45/141 (31.9%) |
Age at disease onset | ||
Mean | 12.7 ± 3.8 [4–28] in 109 | 14.1 ± 3.7 [5–30] in 141 |
Compound heterozygosity | 30/109 (27.5%) | 39/141 (27.7%) |
Genotypes | ||
MS/MS | 35/109 (32.1%) | 75/141 (53.2%) |
Compound Het | 3/35 (8.6%) | 14/75 (18.7%) |
MS/PT | 16/109 (14.7%) | 16/141 (11.3%) |
Compound Het | 16/16 (100%) | 16/16 (100%) |
PT/PT | 58/109 (53.2%) | 50/141 (35.5%) |
Compound Het | 11/58 (19.0%) | 9/50 (18.0%) |
Loss of autonomy at last follow up | 35/52 (67.3%) | 48/64 (75.0%) |
Mean age at onset | 18.2 ± 4.7 [11–40] in 35 | 20.5 ± 6.8 [12–42] in 48 |
Mean time from disease onset | 6.6 ± 4.4 [0.5–23] in 35 | 6.9 ± 5.6 [0.2–21] in 48 |
Deceased at last follow up | 27/109 (24.8%) | 42/141 (29.8%) |
Mean age at death | 22.4 ± 8.9 [14–59] in 27 | 21.1 ± 3.0 [16–35] in 42 |
Mean disease duration | 9.4 ± 7.5 [3–40] in 27 | |