Table 2.

Demographic and clinical features of LD cases

Characteristics	n/N (%) or Mean (SD) [range], yr
Sex, male	89/214 (41.6%)
Geographic origin
European	154/298 (51.7%)
Asian	94/298 (31.5%)
American	44/298 (14.8%)
African	6/298 (2.0%)
Family History
Number of families/cases	248/298
Consanguinity	90/192 (46.9%)
Age at disease onset
Mean	13.4 (± 3.7) [4–30] in 298
< 18 years	271/298 (90.9%)
≥ 18 years	27/298 (9.1%)
Type of disease onset
Seizures alone	149/248 (60.1%)
Motor	63/248 (25.4%)
Cognitive	36/248 (14.5%)
Myoclonus
Absent	4/246 (1.6%)
Mean age at symptom onset	14.8 (± 3.1) [8–28] in 169
Mean time from disease onset	1.0 (± 2.0) [0–17] in 169
Cerebellar symptoms
Absent	19/165 (11.5%)
Mean age at symptom onset	16.7 (± 3.4) [10.5–30] in 77
Mean time from disease onset	4.3 (± 3.4) [0–14] in 77
Visual symptoms	60/298 (20.1%)
Mean age at symptom onset	12.9 (± 2.3) [8.5–18] in 46
Mean time from disease onset	0.5 (± 1.0) [0–4] in 46
Cognitive decline
Absent	11/257 (4.3%)
Mean age at symptom onset	15.3 (± 5.4) [4–45] in 176
Mean time from disease onset	2.3 (± 3.6) [0–26] in 176
Mutated Gene
EPM2A	132/298 (44.3%)
Compound heterozygosity	29/132 (22.0%)
NHLRC1	166/298 (55.7%)
Compound heterozygosity	41/166 (24.7%)
Skin Biopsy
Performed	138/298 (46.3%)
Positive	120/138 (86.9%)
Loss of autonomy
Absent	33/177 (18.6%)
Mean age at onset	19.4 (± 6.2) [10–42] in 83
Mean time from disease onset	6.7 (± 5.1) [0.2–23] in 83
Dead at last follow up	70/272 (25.7%)
Mean age at death	21.6 (± 6.1) [14–59] in 70
Mean disease duration	8.2 (± 5.3) [2–40] in 70

n/N, number of cases in which a certain characteristic is present out of the total number of cases which it was described; SD, standard deviation