Fabry's disease is an X-linked lysosomal storage disorder, the primary pathology of which is accumulation of glycosphingolipids in cells throughout the body, including the nervous system. Neurological symptoms, which include pain, abnormal sensations and stroke, are evident early in the disease course. In this Review, Møller and Jensen highlight the importance of recognizing these symptoms in order to ensure a rapid diagnosis.
- Anette T Møller
- Troels S Jensen