Summary of the New Classification of the NCLs
Adapted by the BDFA from Dr Sara Mole and Dr Ruth Williams, NCL2012 Abstract Book (2012) and referencing the NCL Mutation database, https://ucl.ac.uk/ncl-disease (2024)
| Gene | Protein | Diseases |
|---|---|---|
| CLN1 | Palmitoyl Protein Thioesterase 1 (PPT1) Enzyme |
CLN1 disease, infantile CLN1 disease, late infantile CLN1 disease, juvenile CLN1 disease, adult |
| CLN2 | Tripeptidyl Peptidase 1 (TPP1) Enzyme |
CLN2 disease, late infantile CLN2 disease, juvenile CLN2 disease, adult Hereditary spastic paraplegia or early onset cerebellar ataxia |
| CLN3 | CLN3 Transmembrane protein |
CLN3 disease, juvenile CLN3 disease, protracted juvenile CLN3 disease, adult Retinitis pigmentosa, cone-rod dystrophy |
| CLN4 | DNAJC5 Soluble cysteine string protein α, cytoplasm |
CLN4 disease, adult autosomal dominant |
| CLN5 | Bis(monoacylglycero)phosphate synthase (BMP synthase) Enzyme |
CLN5 disease, late infantile CLN5 disease, juvenile CLN5 disease, adult |
| CLN6 | CLN6 Transmembrane protein; ER |
CLN6 disease, late infantile CLN6 disease, adult Kufs type A Cerebellar ataxia without blindness |
| CLN7 | Major facilitator superfamily domain - containing protein 8 Transmembrane protein (MFSD8) Endolysosomal transporter |
CLN7 disease, late infantile CLN7, adult Macular dystrophy, cone dystrophy, retinitis pigmentosa |
| CLN8 | CLN8 Transmembrane protein; ER-Golgi intermediate complex |
CLN8 disease, late infantile CLN8 disease, juvenile CLN8 disease, adult CLN8 disease, EPMR |
| CLN10 | Cathepsin D Enzyme |
CLN10 disease, congenital CLN10 disease, late infantile CLN10 disease, juvenile CLN10 disease, adult Adult-onset ataxia and retinitis pigmentosa |
| CLN11 | Progranulin Secreted regulatory protein |
CLN11 disease, adult Heterozygous mutations cause frontotemporal lobar degeneration in older adults |
| CLN12 | P-type ATPase Transmembrane protein |
CLN12 disease, juvenile /adult Mutations more usually cause Kufor-Rakeb syndrome |
| CLN13 | Cathepsin F Enzyme |
CLN13 disease, adult Kufs type B |
| KCTD7 (no longer considered an NCL gene) | Potassium Channel Tetramerization Domain-containing protein 7 (KCTD7) | Progressive Myoclonus Epilepsy 3 (PME3) |