Diffusion-weighted MRI in familial Creutzfeldt–Jakob disease with the codon 200 mutation in the prion protein gene

MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study

“…This area of the brain is usually abnormal more than any other region, though the distribution of signal intensity changes can vary across cases and can differ within an individual over time. 8,11,19,35 That FLAIR and DWI are the best sequences to use in evaluation of fCJD supports previous studies of sCJD. 21,22,36,37 In one study of sCJD patients with an average symptom duration of 12 months at the time of MR imaging, DWI and FLAIR were 91% sensitive, 95% specific, and 94% accurate in diagnosing sCJD.…”

“…Our results, along with the previous reports of fCJD, also suggest that the imaging findings in fCJD are in general similar to those seen in sCJD. 5,15,17,[19][20][21][22]33,34 These results are consistent with fCJD having clinical and neuropathologic features seen in the most common molecular subtype of sCJD, which is the MM1 subtype. 14 The basal ganglia signal intensity changes are important markers for CJD.…”

“…[15][16][17][18][19] A collaborative surveillance project of genetic prion cases indicated that approximately 50% of a small number (not specified) of patients with fCJD due to the E200K mutation had abnormal MR images, but specific imaging results were not described. 33 There are also larger imaging studies focused on sCJD that combined a few fCJD patients with sCJD patients into a single subject group but report the MR findings of the combined sample.…”

“…[3][4][5][6][7][8][9][10][11][12][13] fCJD has imaging findings and neuropathology that are, in general, similar to the most common forms of sCJD; however, most imaging studies on fCJD consist primarily of case reports or studies focused on sCJD that combine a few fCJD patients into a single CJD patient sample. 8,[14][15][16][17][18][19][20][21][22] fCJD studies are limited not only by small sample sizes but also by nonstandardized imaging protocols and clinical and pathophysiologic heterogeneity. The complex interactions with disease duration and cognitive and neurologic severity have also made it difficult to interpret studies, especially because the sample sizes are small.…”

Imaging of prion diseases

“…Two cases were falsely negative on MRI (73). Other case reports and case series describing other mutations also revealed imaging findings similar to sCJD (74)(75)(76)(77)(78)(79)(80). In asymptomatic carriers of genetic mutations, MR spectroscopy may demonstrate increased myoinositol in the cortex or basal ganglia whereas the conventional imaging findings as well as the NAA levels are normal.…”