Clinical and genetic features of the Fabry patients.

<p>“+” yes</p><p>“-”no</p><p>*Chaparone-therapy.</p><p>ERT: Enzyme replacement treatment</p><p>Cerebrovascular disease: Infarct or hemorrhage</p><p>Cardiovascular disease: Arrhythmia, congestive heart failure or myocardial infarction</p><p>Renal event: Dialysis (D) or kidney transplantation (KT)</p><p>Unknown: U</p><p>Clinical and genetic features of the Fabry patients.</p

Quantitative 3-dimensional surface projection-analysis of FDG-uptake in patient no 25.

<p>PET-images of patient no. 25 are normalized to whole brain using a database of normal subjects and scaled to Z values from - 4.0 to 4.0 (Neurostat). Projections of Z values are shown onto, respectively, the right and left lateral hemispheric surfaces, the superior and inferior surfaces, and the anterior and posterior surfaces. The uptake in the left cerebellar hemisphere is reduced in addition to uptake in the right frontal cortex. MRI surface projections are presented for anatomical reference in a standard stereotactic space</p

FDG-PET and MRI-features of the Fabry patients.

<p><b><i>n</i>.<i>a</i>.</b><i>not applicable</i></p><p><b><i>-</i></b><i>WML grade 0 or pathology not present</i></p><p><b><i>- / -</i></b><i>no changes in neither PET nor MRI</i></p><p>^<b>a</b> Patient no. 5: symmetrical mildly reduced activity parietotemporally bilaterally</p><p>^<b>b</b> Patient no. 22: symmetrical mildly reduced activity in both thalami <i>Cont</i>.</p><p>^<b>c</b> Progression of pathology on either PET or MRI was detected in the following patients:</p><p>Patient no. 3: PET-study period: seven years</p><p>Patient no. 4: PET-study period: six years.</p><p>Patient no. 8: MRI study period: three years</p><p>Patient no. 9: PET-study period: five years. MRI study period: seven years.</p><p>Patient no. 19: MRI study period: five years</p><p>Patient no. 25: PET/MRI study period: two years.</p><p>FDG-PET and MRI-features of the Fabry patients.</p

PET and MRI of the brain of patient no 25.

<p>Patient no. 25 suffered from a cerebellar hemorrhage and developed a hypometabolic area corresponding to tissue loss in the left cerebellar hemisphere (b + d) in addition to a cerebello-cortical diaschisis (a + b). <b>a</b>: Cortex (MRI fusioned with PET)–decreased activity in the right hemisphere. <b>b</b>: Cerebellum (MRI fusioned with PET)–decreased activity in the left cerebellar hemisphere. <b>c</b>: Cortex (MRI)–no structural changes. <b>d</b>: Cerebellum (MRI)–sequelae after hemorrhage.</p