What this covers
Metachromatic leukodystrophy (MLD) is an inherited metabolic disease caused by deficient activity of the lysosomal enzyme arylsulfatase A, which leads to a build-up of sulfatides and damage to the myelin of both the central and peripheral nervous systems. This review draws together what is known about the peripheral neuropathy in MLD — the nerve damage outside the brain and spinal cord — including its clinical effects, its underlying pathology and how it responds to treatment.
Key takeaways
- Stem cell transplantation can benefit the brain white matter in some patients, but it has little or no effect on the peripheral neuropathy, which may continue to progress.
- Peripheral neuropathy is an important cause of suffering in MLD, contributing to neuropathic pain, foot deformities and bladder problems.
- Early evidence suggests gene therapy may help the peripheral nerves more than transplantation, and inflammation appears to play a part in the nerve damage.
Why it matters
Peripheral neuropathy is often overlooked yet causes real day-to-day disability, so the authors argue that future treatments and care strategies need to give it far more attention.
