| Popis: |
Wilson disease (WD) causes disturbances of the central nervous system both directly through copper toxicity and indirectly by a copper-induced hepatic encephalopathy resulting in morphological and physiological changes in brain structures which can be captured by means of magnetic resonance imagining (MRI), 123I-Beta-CIT-SPECT, 123I-IBZM-SPECT, and 18F-fluorodeoxyglucose–positron emission tomography. MRI reveals even the slightest morphological changes in non-neurological WD patients. More marked findings in neurological WD patients become evident in T1- and T2-weighted MRI. T1-weighted MRI predominantly detects atrophic changes while T2-weighted MRI regularly record signal changes in the putamen. With the aid of these three nuclear medicine investigations, nigrostriatal and metabolic disturbances are identified only in neurological WD patients. Sufficient decoppering therapy prevents progression and even tends to improve symptoms. A correlation between the imaging findings in patients with the genetic phenotype and the incidence of the most common mutation H1069Q (homozygote or compound heterozygote) or other mutations could not be substantiated. |
