CLN13 / CTSF

Mutations generally cause disease with adult onset, including some Kufs type B. Patients with frontotemporal dementia have also been reported, including those with heterozygous mutations.

As more reports are collated, the phenotype associated with CTSF mutations becomes less clear. Patients with juvenile onset have been reported, as have patients with frontotemporal dementia (FTD), including some patients with heterozygous mutations. The CLN13/CTSF tables attempt to capture this detail. Feedack is welcomed.

mutation table to download

cln13_mutation_table_may24.xlsx

cln13_mutation_table_may24.xlsx

 patient table to download

cln13_patient_table_may24.xlsx

cln13_patient_table_may24.xlsx