Familial Creutzfeldt –Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course

ConclusionsHomozygous E200K fCJD patients are characterized by a relatively younger age of onset and longer disease duration. Behavioral changes as a presenting symptom were more common in homozygous patients and cerebellar dysfunction was the most common neurological manifestation throughout the disease course.
Source: Journal of Neurology - Category: Neurology Source Type: research