Clinical type | Cell strain | Ethnic group origin | Sex | Onset of neurological signs | Neurological signs | Hepato- spleno- megaly | Outcome |
Late infantile | OHS | JPN | M | 1.5 y | Epilepsy, psychomotor delay | HSM | 1.5 y (alive) |
KUR | JPN | F | 2.5 y | Epilepsy, deterioration | HSM | ? | |
INO | JPN | M | 2.5 y | Epilepsy, deterioration | HSM | 4.5 y (dead) | |
TAN | JPN | M | 2.5 y | Epilepsy, ataxia, deterioration | Mild SM | ? | |
UCH | JPN | F | 2.5 y | Ataxia, deterioration | HSM | 5 y (dead) | |
AMA | JPN | F | 3 y | Epilepsy, psychomotor delay | HSM | 4 y (alive) | |
YON | JPN | F | 2.5 y | Epilepsy, ataxia, deterioration | HSM | 12 y (alive) | |
SHI | JPN | F | 2.5 y | Epilepsy, deterioration | SM | 4 y (alive) | |
MUR | JPN | M | 5 y | Epilepsy, deterioration | HSM | 15 y (dead) | |
YAN | JPN | F | 5 y | Epilepsy, ataxia, deterioration | No | 19 y (alive) | |
SAK | JPN | ? | ? | ? | ? | ? | |
431-1 | JPN | ? | ? | ? | ? | ? | |
GM03123 | White | F | ? | ? | ? | 9 y (alive) | |
GM110 | White | M | 5 y | Epilepsy, deterioration | ? | 10 y (alive) | |
Juvenile | SAS | JPN | F | 13 y | Epilepsy, ataxia, deterioration | Mild SM | 17 y (alive) |
END | JPN | M | 15 y | Dystonia, ataxia, VSO | Mild SM | 17 y (alive) | |
Adult | KAI | JPN | M | 25 y | Dementia, ataxia, dystonia, epilepsy, VSO | SM | 42 y (dead) |
JPN: Japanese, HSM: hepatosplenomegaly, SM: splenomegaly, VSO: vertical supranuclear ophthalmoplegia.