Table 1.
Neuronal ceroid lipofuscinosis diseases with their age at manifestation, genes, and dysfunctional proteins
| Designation of disease | OMIM | Gene | Protein | Cellular localization | ||||
|---|---|---|---|---|---|---|---|---|
| CLN1 disease | Infantile | Late infantile | Juvenile | Adult | 256730 | CLN1 (PPT1) | Palmitoyl protein thioesterase 1 (PPT1) | Soluble lysosomal protein |
| CLN2 disease | Late infantile | Juvenile | 204500 | CLN2 (TPP1) | Tripeptidyl peptidase (TPP1) | Soluble lysosomal protein | ||
| CLN3 disease | Juvenile | 204200 | CLN3 | CLN3 | Lysosomal membrane protein | |||
| CLN4 diseasea | Adult | 162350 | CLN4 (DNAJC5) | Cysteine string protein α (CSP α) | Cytosolic, associated with vesicular membranes | |||
| CLN5 disease | Late infantile | Juvenile | Adult | 256731 | CLN5 | CLN5 | Soluble lysosomal protein | |
| CLN6 disease | Late infantile | Adult | 601780 | CLN6 | CLN6 | ER membrane protein | ||
| CLN7 disease | Late infantile | Juvenile | 610951 | CLN7 (MFSD8) | CLN7 | Lysosomal membrane protein | ||
| CLN8 disease | Late infantile | Juvenile | 600143 | CLN8 | CLN8 | ER membrane protein | ||
| CLN10 disease | Congenital | Juvenile | Adult | 610127 | CLN10 (CTSD) | Cathepsin D (CTSD) | Soluble lysosomal protein | |
| CLN11 disease | Adult | 614706 | CLN11 (GRN) | Progranulin | Soluble lysosomal protein | |||
| CLN12 disease | Juvenile | 610513 | CLN12 (ATP13A2) | ATP 13A2 | Lysosomal membrane protein | |||
| CLN13 disease | Adult | 615362 | CLN13 (CTSF) | Cathepsin F | Soluble lysosomal protein | |||
| CLN14 disease | Infantile | Late infantile | 611725 | CLN14 (KCTD7) | Potassium channel tetramerization domain-containing protein type 7 | Cytosolic, partially associated with membranes | ||
ER endoplasmic reticulum
aAutosomal dominant inheritance