Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.
Shih-Ying ChenWei-Che LinYung-Yee ChangTsu-Kung LinMin-Yu LanPublished in: BMC neurology (2020)
Two novel MYORG variants were identified in Taiwanese family members presenting with PFBC. Abnormalities in the brain perfusion and dopamine transporter SPECTs suggest that cerebral ischemia due to extensive calcified vasculopathy, disruption of the basal ganglia-thalamo-cortical circuit, and nigrostriatal dopaminergic dysfunction are plausible pathogenic mechanisms of neurodegeneration in PFBC patients. Further investigation into the correlations between the pathogenicity-implicated imaging findings and the clinical phenotype are recommended.
Keyphrases
- cerebral ischemia
- case report
- subarachnoid hemorrhage
- resting state
- end stage renal disease
- white matter
- blood brain barrier
- brain injury
- chronic kidney disease
- functional connectivity
- copy number
- oxidative stress
- newly diagnosed
- high resolution
- ejection fraction
- peritoneal dialysis
- uric acid
- escherichia coli
- computed tomography
- magnetic resonance imaging
- metabolic syndrome
- gene expression
- patient reported outcomes
- pseudomonas aeruginosa