Adult-onset Autosomal Dominant Leukodystrophy (ADLD)
https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2025.1531593/full
This article is a literature review summarizing the characteristics of 8 Chinese patients (7 families) with ADLD and documenting early clinical and imaging identification of the disease. In five patients, the first reported signs were autonomic abnormalities (bladder dysfunction, constipation, etc) followed by slowly progressing motor symptoms (limb weakness, gait disturbance). MRI imaging revealed bilateral white matter lesions in the brain. The final diagnosis was made by genetic testing, which showed duplication of the LMNB1 gene. While all cases seem to have the LMNB1 gene involved, the exact disease mechanisms remain unclear. The report concludes that the combination of slowly progressing limb weakness and symmetric leukodystrophy on the brain MRI should orientate the diagnosis toward LMNB1 gene-related ADLD.