Table 2:

Clinical features of patients with NCLa

NCL SubtypesSexSpeech Delay n (%)Visual Impairment n (%)Seizures n (%)Behavioral Abnormalities n (%)Cognitive Decline n (%)Developmental Regression n (%)
CLN1 disease (n = 6)M (n = 4), F (n = 2)5 (83)5 (83)4 (67)3 (50)5 (83)5 (83)
CLN2 disease (n = 5)M (n = 5)4 (80)3 (60)4 (80)2 (40)4 (80)4 (80)
CLN3 disease (n = 2)M (n = 2)2 (100)2 (100)1 (50)2 (100)2 (100)2 (100)
CLN5 disease (n = 1)F (n = 1)1 (100)1 (100)1 (100)1 (100)1 (100)1 (100)
CLN6 disease (n = 2)M (n = 1), F (n = 1)1 (50)1 (50)1 (50)1 (50)2 (100)2 (100)
CLN7 disease (n = 6)M (n = 4), F (n = 2)6 (100)2 (33)6 (100)2 (33)6 (100)6 (100)
CLN8 disease (n = 2)M (n = 1), F (n = 1)2 (100)0 (0)2 (100)0 (0)2 (100)2 (100)
  • a Data are number of patients (percentage in parenthesis).