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 studies carried out