Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type.

摘要: Background: Recently, six molecular subtypes of sporadic CJD (sCJD) have been identified showing differences regarding the disease course, neuropathologic lesion patterns, and sensitivity to diagnostic tools. Only isolated cases rare VV1 type reported so far. Objective: To describe clinical characteristics profiles in nine cases. Methods: In years 1993 until late 2003, 571 definite neuropathologically confirmed were Germany. Of these, homozygous for valine displayed 1 pathologic PrP Sc brain (VV1 type). Results: The authors eight men one woman belonging type. All patients relatively young at onset (median 44 vs 65 all sCJD) with prolonged duration 21 months 6 sCJD). During initial stages, their main signs personality changes slowly progressive dementia as well focal neurologic deficits. None had periodic sharp-wave complexes (PSWCs) EEG. two out seven typical signal increase basal ganglia on MRI, whereas cortex was seen patients. 14-3-3 protein levels elevated CSF tested. Conclusions: diagnosis sCJD can be best supported by test cortical MRI. Because age vCJD is sometimes suspected a differential diagnosis. MRI plays an important role differentiating these types should performed early during course.