Between five and 10 patients had juvenile neuronal ceroid lipofuscinosis (JNCL), PTRHD1, RAB39B, X‐linked parkinsonism with spasticity, Alexander disease, dopa‐responsive dystonia‐parkinsonism (NR4A2), Fragile‐X syndrome or spastic paraplegia type 15 (SPG15). Here, PTRHD1 is linked to juvenile neuronal ceroid lipofuscinosis.