HABC Hypomyelination of basal ganglia nad cerebellum

van der Kmaap MS, Linnannkivi T, Paetau A et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: followup and pathology. Neurology 2007; 69: 166-171.

A report of 11 new patients is made. Typically a pediatric population presented with normal or delayed psychomotor development, with increasing extrapyramidal movement disorders, spasticity and ataxia. The putamen was small or absent, the caudate often atrophic with normal thalamus and globus pallidus. The cerebellar granular layer was typically affected. All known patients were sporadic. This is a recently described syndrome (2002) with less than 20 reported cases.