A new collaborative paper shows that diagnosing genetic white matter diseases that mimic MS is challenging. Leuko-vasculopathies in particular, like CADASIL, pose diagnostic difficulties due to similar clinical and imaging features, including remitting course and contrast enhancement. Other disorders frequently misdiagnosed as MS were adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related disorders) and adult-onset Alexander disease.
The study was led by Dr Yann Nadjar and included Dr Roberta La Piana, Dr. Natalia Shor and Dr. Gabrielle Macaron, all members of the WM Rounds Network.
