A new paper by the White Matter Rounds Network has just been accepted in the American Journal of Neuroradiology (AJNR), marking an important step toward improving how adult genetic leukoencephalopathies (AGL) are diagnosed around the world.
Adult-onset genetic white matter diseases are difficult to recognize. Their imaging features often overlap with more common acquired conditions, leading to frequent misdiagnosis and long diagnostic delays. Since MRI is one of the most powerful tools for narrowing the differential, the WM Rounds Network set out to answer a simple but critical question: are we all even looking at them in the same way? Using a modified Delphi process, neuroimaging experts from more than 15 international centres participating to the WM Rounds surveyed current MRI practices and worked toward a shared standard. The result is a core harmonized MRI protocol designed specifically for suspected adult genetic leukoencephalopathies. The recommended protocol includes key sequences such as 3D T1 MPRAGE, 3D FLAIR, axial T2 and T2-FLAIR, DWI/ADC, SWI, and targeted spinal imaging, all within a scan time of about 40 minutes. In addition, four recommendations were put forward. You can read more in the full study.
Together, the proposed protocol and the recommendations provide a clear, evidence-based framework for imaging adults with suspected genetic white matter disease. By aligning MRI practices across institutions, this work aims to reduce unnecessary testing, improve diagnostic accuracy, and ultimately help patients reach the right diagnosis faster.
