Radiology: Which MRI findings are related to the clinical severity of Wilson's disease?

 Wilson disease (WD) is an autosomal recessive genetic disease caused by mutations in the ATP7B gene.
It is a congenital disorder of copper metabolism that mainly affects the liver and brain
.

Excessive copper accumulation in brain tissue can cause neurological symptoms related to neuroimaging abnormalities, which can be observed on brain MRI

 Wilson disease (WD) is an autosomal recessive genetic disease caused by mutations in the ATP7B gene.

Recently, research has developed and validated a semi-quantitative scale for visual assessment of WD severity on brain MRI

Recently, a study published in the journal Radiology explored the relationship between MRI regional brain atrophy and iron accumulation and clinical severity in patients with neurological WD who received long-term anti-copper therapy, and provided an in-depth explanation of the pathophysiological characteristics of WD.

A total of 29 WD patients (mean age, 47 years ± 9 [standard deviation]; 15 women) and 26 control participants (mean age, 45 years ± 12; 14 women) were evaluated
.

Whole brain analysis showed that the deep gray matter nucleus, brainstem, internal capsule, motor cortex and corticospinal co-path of WD patients, as well as visual cortex and optic nerve radiation atrophy (Voxel level P <.

001) .

Figure 1 Schematic diagram of MRI data processing for quantitative magnetic susceptibility mapping and volume analysis
.

Figure 1 Schematic diagram of MRI data processing for quantitative magnetic susceptibility mapping and volume analysis
.

Figure 2 This figure shows the regression analysis results of UW-DRS score, putamen volume (left) and MRI score (right)
.

The blue line represents the linear regression fit, and the gray shaded area represents the 95% confidence interval

Figure 2 This figure shows the regression analysis results of UW-DRS score, putamen volume (left) and MRI score (right)

This study found that patients with Wilson disease (WD) have extensive gray matter and white matter volume loss

Original source:

Petr Dusek , Artem Lescinskij , Filip Ruzicka , et al.

Associations of Brain Atrophy and Cerebral Iron Accumulation at MRI with Clinical Severity in Wilson Disease .
DOI: 10.
1148/radiol.
2021202846

Dusek Petr , Artem Lescinskij , Filip Ruzicka , et Al.
Associations of Brain Iron Accumulation Cerebral Atrophy and AT with the MRI Clinical Disease Severity in Wilson .
The DOI: 10.
1148 / radiol.
2021202846 10.
1148 / radiol.
2021202846 in this message