Table 1.
Case | Disease | Breed/sex | Type | Onset (months) | Age when videos are available (months) | Death (months) | Diagnosis | Gene | Mutation |
---|---|---|---|---|---|---|---|---|---|
1 | NCL | CH/M | LJ | 18 | 19, 22, 23 | 24 | G, P | MFSD8 |
MFSD8:c.843delT chr19:13,010,759delT* |
2 | NCL | CH/M | LJ | 16 | 18, 21 | 23E | G, P | MFSD8 |
MFSD8:c.843delT chr19:13,010,759delT* |
3 | NCL | BC/M | LJ | 16 | 16 | 25E | G, P | CLN5 |
CLN5:c.619C>T chr22:30,574,637C>T* |
4 | NCL | BC/F | LJ | 20 | 23 | 26 | G | CLN5 |
CLN5:c.619C>T chr22:30,574,637C>T* |
5 | NCL | Shikoku/M | A | 32 | 35, 44, 46, 47, 49, 51, 53, 65, 68 | 68E | P | ND | ND |
6 | GM2 | TP/F | LJ | 12 | 21 | 21E | G, P | HEXB | chr2:57,225,684delG* |
7 | GM2 | TP/F | LJ | 11 | 16, 16.5, 17, 17.5, 18, 18.5, 19 | 23 | G, LE, TLC, P | HEXB | chr2:57,225, 684delG* |
8 | GM1 | Shiba/M | J | 5 | 5, 7 | 11E | G, P | GLB1 | chr23:3,796, 317delC* |
9 | GM1 | Shiba/F | J | 6 | 6, 9 | 12 | G | GLB1 | chr23:3,796, 317delC* |
NCL, neuronal ceroid lipofuscinosis; GM2, GM2 gangliosidosis; GM1, GM1 gangliosidosis; CH, Chihuahua; BC, Border Collie; TP, Toy Poodle; M, male; F, female; LJ, late-juvenile; A, adult; J, juvenile; E, euthanasia; G, genetic test; P, pathology; LE, leukocyte enzyme activity; TLC, thin-layer chromatography; ND, not determined.
CanFam 3.1.