CLN12 / ATP13A2

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

cln12_patient_and_mutation_mar_23.xlsx

cln12_patient_and_mutation_mar_23.xlsx