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Table 1 Clinical details and demographic profile of the patients with Batten disease (NCL1 and NCL2)

From: Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

  Total patients
n = 34
NCL1
n = 12
NCL2
n = 22
Age at the time of investigation (years) 4.46 ± 2.30 3.03 ± 1.80 5.25 ± 1.93
Gender
 Male 22 (64.7%) 8 (66.6%) 14 (63.6%)
 Female 12 (35.3%) 4 (33.4%) 8 (36.4%)
Regional distribution
 East India 2 (5.9%) 0 2 (9.09%)
 West India 9 (26.4%) 2 (16.7%) 7 (31.81%)
 North India 3 (8.8%) 1 (8.3%) 2 (9.09%)
 South India 20 (58.9%) 9 (75%) 11 (50%)
Clinical presentation
 Epilepsy 31 (91.2%) 10 (83.33%) 21 (95.45%)
 Visual impairment 19 (55.9%) 3 (25%) 16 (72.72%)
 Cerebral atrophy 22 (64.7%) 6 (50%) 16 (72.72%)
 Cerebellar atrophy 27 (79.41%) 6 (50%) 21 (95.45%)
  1. Data are n (%) or mean ± SD.