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Table 1 Clinical features of the reported patients with CLCN2-related leukoencephalopathy

From: CLCN2-related leukoencephalopathy: a case report and review of the literature

Features No. of subject
Gender (%)
 Female 12 (86)
 Male 2 (14)
Age at first sign 3 months - 57 years (27.87 ± 18.82)
Presenting signs (%)
 Ataxia 5 (36)
 Headache 4 (29)
 Action tremor 3 (21)
 Visual changes 3 (21)
 Psycho-cognitive problems 2 (14)
 Tinnitus and vertigo 1 (7)
 Limbs numbness 1 (7)
 Azoospermia 1 (7)
 Seizure 1 (7)
Motor dysfunction (%) 13 (93)
 Cerebella ataxia 11
 Action tremor 5
 Spasticity 2
 Seizure 1
 Paraparesis 1
Psycho-cognitive problems (%) 5 (36)
 Learning disability 3
 Psychosis 1
 Mild memory decline 1
 Mild executive dysfunction 1
Headache (%) 5 (36)
Ocular changes (%) 4 (29)
 Uncorrectable diminished visual acuity 3
 Optic neuropathy 3
 Retinopathy 4
 Visual field defects 4
Abnormal evoked potential (%) 3 (21)
 Brainstem auditory evoked potential 2
 Visual evoked potential 2
 Motor evoked potential 1
Auditory abnormality (%) 3 (21)
 Hearing loss 2
 Tinnitus 2
Male infertility (%) 1 (50)
Consanguineous parents (%) 7 (50)