Disease with juvenile onset in one family
One family with a homozygous mutation in ATP13A2 was diagnosed with CLN12 disease.
Mutations in ATP13A2 typically cause other diseases (Kufor-Rakeb syndrome, late-onset autosomal recessive spastic paraplegia 78 (SPG78) and juvenile onset amyotrophic lateral sclerosis (ALS)).
Patient and mutation information are in a single table