Table 1. Current NCL Genotype-Phenotype Classification [3,6,11].
| Disease Former Eponym [Ref. N°] |
OMIM Number |
Clinical Subtype |
Morphologycal Phenotype |
Chromosome | Gene | Gene Product |
Stored Protein |
|---|---|---|---|---|---|---|---|
| CLN1 Haltia-Santavuori [15-18] |
256730 | infantile, late infantile, juvenile, adult |
GROD | 1p32 | CLN1 | PPT1 | SAP |
| CLN2 Janský-Bielschowsky [18-21] |
204500 | late infantile, classic juvenile |
CB, CB+FP | 11p15 | CLN2 | TPP1 | SCMAS |
| CLN3 Batten-Spielmeyer-Vogt- Sjögren [22-25] |
204200 | classic juvenile | FP, vacuolated lymphocytes |
16p12 | CLN3 | CLN3 | SCMAS |
| CLN4 A Kufs [46-48] |
204300 | adult | mixed | ? | ? | ? | SCMAS |
| CLN5 Finnish variant [26-30] |
256731 | late infantile, juvenile,adult |
FP, various | 13q22 | CLN5 | CLN5 | SCMAS |
| CLN6 Lake-Cavanagh [31-34] |
601780 | late infantile variant |
FP | 15q21-23 | CLN6 | CLN6 | SCMAS |
| CLN7 Turkish variant [35-39] |
610951 | late infantile variant |
FP or mixed | 4q28.1- q.28.2 |
MFSD8 | MFSD8 | SCMAS |
| CLN8 Northern epilepsy [40-42] |
600143 | late infantile variant |
CB or GROD-like |
8p32 | CLN8 | CLN8 | SCMAS |
| CLN9 [49,50] | 609055 | juvenile variant | GROD, CB, or FP- like |
? | ? | ? | ? |
| CLN10 Congenital variant [12-14] |
610127 | congenital, late infantile, juvenile, adult |
GROD, myelin-like lamellar structures |
11p15.5 | CLN10 | CTSD | SAP |
| CLCN6 [43] | 602726 | adult variant* | FP, CB | 1p36 | CLCN6 | CLC-6 | SAP D SCMAS |
| CLCN7 [44] | 259700 | I Osteopetrosis | ? | 16p3 | CLCN7 | CLC-7 | ? |
| CLN4 B Parry [51-53] |
162350 | adult | GROD | ? | ? | ? | SAP |
| SGSH MPSIII |
adult | SGSH | SGSH |
Morphological phenotype: GROD, granular osmiophilic deposits; CB: curvilinear bodies; FP: fingerprints. Gene product: PPT1, Palmitoyl Protein Thioesterase 1; TPP1, Tripeptidyl Peptidase 1; CTSD: Cathepsin D. Stored protein: SAPs, sphingolipid activator proteins; SCMAS, subunit c of mitochondrial ATPase.
*
mutations found only on one disease allele.