Advances In Rare Central Nervous System Diseases: Genetics, Imaging Manifestations, And Mechanisms

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Background

In the era of precision medicine, complex diseases usually defined by clinical manifestations can now be further classified into different subtypes at the molecular level. With the advancement of multi-omics technologies, much progress in uncovering the new biomarkers for complex diseases has been made, and the molecular etiologies related to the syndromes of development and the maintenance of the human body have been established, especially in the central nervous system (CNS).

CNS diseases are a group of neurological disorders that affect the structure or function of the brain or spinal cord, which collectively form the central nervous system. Types of CNS diseases include, but are not limited to, intellectual disability, addiction, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), epilepsy or seizures, Tourette's syndrome, neurodegenerative disorders (NDD), neuroinflammatory diseases, neurometabolic disorders, congenital brain malformations, and other Undiagnosed Disease. By integrating multi-omics, neuroimaging, and other technologies highlighted in recent research, an unprecedented deeper understanding of rare CNS diseases has been made. In addition to the effort to decipher pathogenic mechanisms, new findings have facilitated the development of new drugs and treatments and ultimately promoted the health of patients and families with rare CNS diseases.

This research topic aims to focus on the recent advances in the genetic and clinical diagnosis, etiological, and treatment research of rare CNS diseases. We welcome original research articles or reviews mainly covering genetic research and imaging manifestations to improve the diagnosis, treatment, and prediction of prognosis of rare CNS diseases. We also welcome the mechanism studies that investigate the pathogenesis of these diseases.

Areas to be covered in this Research Topic may include, but are not limited to:
- New causative genes of rare CNS diseases
- New genotype-phenotype associations of rare CNS diseases
- Advances in genetic and imaging technology to improve the diagnosis of rare CNS diseases
- Mechanistic and functional study to uncover rare CNS diseases etiology
- A cohort study of rare CNS diseases
- New treatment of rare CNS diseases

Keywords: Rare central nervous system diseases, Genetics, Imaging manifestations, Genotype-phenotype correlation, Novel gene identification, Etiology, Treatment

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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