Neuroimaging in Primary Coenzyme-Q₁₀-Deficiency Disorders.

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Coenzyme Q10 (CoQ10) is vital for mitochondrial ATP synthesis and other cellular processes.
• Inborn errors in CoQ10 biosynthesis enzymes, encoded by 11 known genes, cause deficiency.
• CoQ10 deficiency severely impacts the nervous system, leading to various neurological disorders.

Purpose of the Study:

• To review brain MRI patterns in primary CoQ10 biosynthesis disorders.
• To highlight disease-specific neuroimaging findings.
• To aid in the diagnosis of CoQ10 deficiency.

Main Methods:

• Literature review of primary CoQ10 biosynthesis disorders.
• Analysis of reported brain MRI findings.
• Correlation of MRI patterns with specific genetic defects.

Main Results:

• CoQ10 deficiency causes neuronal death, neuroinflammation, and gliosis.
• Clinical features include encephalopathy, epilepsy, and intellectual disability.
• Brain MRI is crucial for diagnosing neurological damage, showing variable patterns.

Conclusions:

• Primary CoQ10 biosynthesis disorders present with diverse neurological symptoms and MRI findings.
• Understanding these MRI patterns is essential for early diagnosis and management.
• Further research is needed to fully elucidate CNS manifestations and guide treatment.