CLCN2-related Leukoencephalopathy
CC2L, Leukoencephalopathy with mild cerebral ataxia and white matter edema
Inheritance:
Autosomal recessive
Inheritance from both parents will result in the disease
Age range at onset:
Anytime (childhood or adulthood)
Specialists you may see:
Symptoms
: CLCN2-related leukoencephalopathy is very rare and can become apparent either in childhood or in adulthood, but generally does not progressively worsen. Those diagnosed as children may have learning difficulties, those with symptoms beginning in adulthood often have vision problems.
Common symptoms include difficulty with coordination and balance, as well as frequent headaches and sometimes mild spasticity. The following symptoms have also been observed, these may be as a result of the leukoencephalopathy but may also be coincidental: dizziness, tinnitus (ringing in the ears), hearing loss, psychiatric disorders, paroxysmal kinesigenic dyskinesia (episodic abnormal movements).
Males with this condition may be infertile.
Cause
Mutations in the CLCN2 gene cause this condition. This gene provides instructions to make a chloride channel (CIC2) which is important in generation and transmission of electrical signals within cells. These channels also regulate water and ion levels in the cells. They are embedded in most cells and are particularly important in the brain.
When the CLCN2 gene is mutated, the channel function is impaired, or the channel cannot work at all. This leads to a build up of water in myelin (white matter) in the brain. This myelin is then unable to transmit nerve impulses effectively, resulting in the symptoms described.