A type of leukodystrophy
Genetics:
heterogeneous
Autosomal recessive,
Protein= gap junction protein 12 a.k.a. connexin 46.6 (Cx 46.6), a.k.a. connexin 47 (Cx 47),
Gene= GJA12 gene mutation
Clinical features:
First months of life: impaired motor development and nystagmus
Later on: ataxia, dystonia, dysarthria, and progressive spasticity
Spastic paraplegia: childhood onset, progressive and may occur without other features
Findings on investigations:
MRI: hypomyelination pattern,
- T2 or FLAIR diffuse hyperintensity in cerebral hemispheric white matter.
- T1+gadolinium: poor or no enhancement