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Table 2 Demographic and clinical features of LD cases

From: Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

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
  1. 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