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) |