Genetic disorders with central nervous system white matter abnormalities: An update

Area of Science:

• Neuroscience
• Genetics
• Medical Imaging

Background:

• Genetic disorders frequently present with central nervous system white matter abnormalities.
• Understanding these conditions is crucial for accurate diagnosis and management.

Purpose of the Study:

• To comprehensively review genetic disorders with prominent white matter involvement.
• To consolidate information on definitions, classification, clinical and neuroimaging findings, genomics, and molecular mechanisms.

Main Methods:

• Systematic literature review of 422 genetic conditions.
• Analysis of existing data on clinical presentation, neuroimaging, and genetic testing.

Main Results:

• Detailed descriptions of definitions, classification systems, and clinical/neuroimaging spectrum.
• Integration of genomic and molecular insights into white matter disorders.
• Highlighting the continued relevance of clinical and imaging data alongside genomic tests like exome sequencing.

Conclusions:

• Provides a unified resource for understanding genetic white matter disorders.
• Emphasizes the combined importance of clinical, imaging, and genomic approaches for diagnosis.
• Reviews current knowledge on pathophysiology and therapeutic strategies.