Table 2.

Distribution of clinical features, neuroimaging features, and histopathology results of patients with and without molecular genetic diagnosis of NCL are listed. Fisher's exact test was applied for the comparison of proportions for each finding between two groups and are listed

Clinical features and investigations	Number of patients with molecular genetic diagnosis of NCL (percentage) (n = 33)	Number of patients with no molecular genetic diagnosis of NCL (percentage) (n = 76)	Fisher's exact test P value
Neurodevelopment and neurological features
GDD	23 (69.6%)	56 (73.7%)	.8158
Regression or cognitive decline	19 (57.5)	15 (19.7%)	.0017
Hypotonia	1 (3%)	22 (28.9%)	.0017
Hypertonia	2 (6%)	13 (17.1%)	.224
Seizures	27 (81.8%)	59 (77.6%)	.7993
GTCS	21 (63.6%)	23 (30.2%)	.0015
Myoclonic	18 (54.5%)	20 (26.3%)	.008
Absence	11 (33.3%)	17 (22.3%)	.2417
Infantile spasms	0 (0%)	12 (15.7%)	.0165
Partial Seizures	11 (33.3%)	10 (13.1%)	.0188
Visual impairment	22 (66.6%)	13 (17.1%)	<.0001
Movement disorder	19 (57.5%)	33 (43.4%)	.2125
Ataxia	13 (39.3%)	15 (19.7%)	.0545
Dystonia	3 (9.1%)	0 (0%)	.026
Tremor	3 (9.1%)	7 (9.2%)	1
Behavioral problems	7 (21.2%)	13 (17.1%)	.6007
Failure to thrive	1 (3%)	8 (10.5%)	.2722
Histopathology	18	19
Normal	3 (16.6%)	19 (100%)	<.0001
Granular osmiophilic inclusions	6	0
Finger print	2	0
Curvilinear and fingerprint profiles	6	0
Brain MRI features	22	67
Cerebral and/or cerebellar atrophy	21 (95.4%)	37 (55.2%)	.0005
Abnormal T2/FLAIR signal intensities	15 (68.2%)	18 (26.8%)	.0008
Corpus callosum abnormalities	1 (4.5%)	17 (25.3%)	.0362
Delayed myelination	0 (0%)	12 (17.9%)	.0077
Hypomyelination	0 (0%)	4 (5.9%)	.2991

Abbreviations: GDD, global developmental delay; GTCS, generalized tonic‐clonic seizures; MRI, magnetic resonance imaging.