Alexander Disease
https://pn.bmj.com/content/early/2025/05/10/pn-2024-004490.long
Alexander disease (AxD) is a rare genetic disorder caused by mutations in the GFAP gene. It is traditionally classified into infantile, juvenile and adult forms. While early-onset cases are often severe, adult-onset AxD is very diverse in how it presents and can be mistaken for other conditions such as multiple sclerosis. In this study, researchers collected clinical and imaging data from four cases diagnosed with adult-onset AxD to provide guidance for timely referral of adult patients with suspected AxD. They found that cognitive decline was less common than in childhood forms. Common early symptoms included speech and swallowing issues, muscle stiffness and impaired balance. MRI imaging data revealed characteristic changes, including shrinkage of the brainstem and the top of the spinal cord called medulla. In the presence of suggestive clinical and neuroimaging features, genetic testing for GFAP mutations should be performed. Diagnosis of AxD in adults is complex and challenging, but awareness and collaboration among neurologists, neuroradiologists and medical geneticists could improve accuracy and time to diagnosis.