The cerebellum is an essential part of the Central Nervous System. It is the main neurological structure affected in PMM2-CDG.
The cerebellum, while once considered a brain region principally involved in motor control and coordination, and that is nowadays more frequently implicated with a series of neuropsychological and neuropsychiatric presentations.
In the the figure it can be compared the cerebellum of a child affected by PMM2-CDG (above) with the cerebellum of a healthy child (down) with important differences regarding the volume of the cerebellum. Related to this neurological abnormality, which determines the functionality and autonomy of the Children and Youth with PMM2-CDG, we are studying its affectation, its relevance, its progression and the psychological manifestations. This could only be possible with the collaboration of physicians and families of the patients.