Objective:

To review contributions to the Research Topic 'Reviews in neurogenetics' published in Frontiers in Neurology and highlight advancements in diagnosing and treating neurogenetic disorders.

Approach:

• Clinical trials in Charcot-Marie-Tooth Disorders: Nair et al. conducted a retrospective analysis of clinical trials from 1999 to 2022, noting a significant increase in trials focused on procedural and targeted gene therapies, with most trials hosted in academic settings.
• Neuroimaging in PRUNE1 syndrome: Scorrano et al. reviewed the clinical and radiological features of PRUNE1 syndrome, emphasizing the importance of neuroradiological features for diagnosis.
• Genetic blueprints of neurological disorders: Saeed et al. provided a comprehensive review of genetic bases for various neurological disorders and discussed the potential of RNA-based therapeutics and gene therapies.
• Clinical and genetic analysis of cerebrotendinous xanthomatosis: Guoliang et al. investigated a Chinese family with CTX, identifying genetic variants and broadening the understanding of CTX's clinical spectrum.

Key Findings:

• Substantial growth in clinical trials for Charcot-Marie-Tooth disorders, primarily in academic settings.
• Identification of key neuroradiological features in PRUNE1 syndrome that aid in diagnosis.
• Potential of RNA-based therapeutics and gene therapies highlighted in the context of neurological disorders.
• Discovery of specific genetic variants in cerebrotendinous xanthomatosis that enhance diagnostic understanding.

Interpretation:

The editorial emphasizes the need for continued research and application of comparable approaches across various neurogenetic disorders.

Limitations:

• Limited representation of less common neurogenetic disorders in current research.
• Potential biases in the retrospective analysis of clinical trials.

Conclusion:

The editorial calls for further integration of genetic investigations, therapeutic approaches, and neuroimaging to advance understanding and treatment of neurogenetic disorders.

Sources:

• Frontiers in Neurology