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. 2021 Dec 14;8:802668. doi: 10.3389/fvets.2021.802668

Table 1.

Summary of the cases studied.

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.