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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.