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