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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)