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Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease
Amanda Gerard1,2, Elizabeth Mizerik1,2, Carrie A Mohila3,4
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Insights
Pathogenic variants in PARS2 cause early infantile epileptic encephalopathy. Autopsy findings reveal intracranial calcifications, suggesting this is a new feature of PARS2-related mitochondrial disease.
Area of Science:
- Genetics and Molecular Biology
- Neuropathology
- Mitochondrial Biology
Background:
- PARS2 gene encodes a mitochondrial aminoacyl-tRNA synthetase crucial for proline ligation.
- PARS2 variants are linked to early infantile developmental epileptic encephalopathies (EIDEE) and neurodegeneration.
- Dilated cardiomyopathy is a known comorbidity in affected individuals.
Observation:
- Neuropathological examination of a deceased male with PARS2-related disease was performed.
- Intracranial calcifications were observed in the basal ganglia, thalamus, cerebellum, and white matter.
- These calcifications resemble those seen in Aicardi-Goutières syndrome.
Findings:
- Detailed autopsy findings in a child with PARS2-related mitochondrial disease are presented.
- The study provides evidence for intracranial calcifications as a potential feature of this disorder.
- This expands the known clinical and pathological spectrum of PARS2-related disorders.
Implications:
- Highlights the importance of neuropathological examination in rare genetic disorders.
- Suggests that intracranial calcifications should be monitored in patients with PARS2 variants.
- Aids in refining diagnostic criteria and understanding the pathophysiology of PARS2-related diseases.
Abstract:
PARS2 encodes an aminoacyl-tRNA synthetase that catalyzes the ligation of proline to mitochondrial prolyl-tRNA molecules. Diseases associated with PARS2 primarily affect the central nervous system, causing early infantile developmental epileptic encephalopathies (EIDEE; DEE75; MIM #618437) with infantile-onset neurodegeneration. Dilated cardiomyopathy has also been reported in the affected individuals. About 10 individuals to date have been described with pathogenic biallelic variants in PARS2. While many of the reported individuals succumbed to the disease in the first two decades of life, autopsy findings have not yet been reported. Here, we describe neuropathological findings in a deceased male with evidence of intracranial calcifications in the basal ganglia, thalamus, cerebellum, and white matter, similar to Aicardi-Goutières syndrome. This report describes detailed autopsy findings in a child with PARS2-related mitochondrial disease and provides plausible evidence that intracranial calcifications may be a previously unrecognized feature of this disorder.
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