Undefined leukodystrophies

Undefined leukodystrophies are diseases for which the responsible gene has not yet been identified or is in the process of being identified. They represent 30% of leukodystrophies.
Leukodystrophies of undefined cause are extremely rare diseases that are difficult to identify and diagnose. Among them, we find:
Orthochromatic pigmented leukodystrophy
Leukodystrophy with progressive ataxia, deafness and cardiomyopathy
In the majority of cases, the disease is so rare that it is difficult to even name it.

The tests carried out:

• Update on indeterminate leukodystrophies
• Leukodystrophies of undetermined cause: research and diagnosis