Table 1.
Demographic data, clinical signs, and scores.
| Patient | Age | Sex | Mutation | Therapy/age | Modified severity scoring tool | Montreal cognitive assessment | Epilepsy/age of onset | Abnormal gaze | Cerebellar signs | Pyramidal signs | Extrapyramidal signs |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 50 | F | L444P/L444P | ERT | 5.5 | 26 | N | Y | N | Y | N |
| 2 | 43 | F | L444P/L444P | Allo-BMT/9 | 17 | 19 | Y/23 | Y | Y | Y | Y |
| 3 | 31 | F | L444P/L444P | Allo-BMT/2 | 8.5 | 25 | Y/16 | Y | N | Y | Y |
| 4 | 51 | M | L444P/L444P | ERT | 14 | 26 | Y/45 | Y | Y | Y | N |
| 5 | 28 | M | L444P/L444P | ERT | 12 | 24 | Y/17 | Y | Y | N | N |
| 6 | 38 | F | L444P/L444P | ERT | 1 | 26 | N | N | N | N | N |
| 7 | 23 | M | L444P/A341T | ERT | 1 | 30 | N | N | N | Y | N |
| 8 | 56 | F | L444P/L444P | ERT | 11.5 | 25 | N | Y | Y | Y | N |
| 9 | 50 | M | L444P/L444P | ERT | 13 | 15 | N | Y | Y | Y | N |
| Mean | 41.1 | 56% F | 100/89% | 78% ERT | 9.3 ± 5.4 | 24.0 ± 4.2 | 44% Y/25.25 | 78% Y | 56% Y | 78% Y | 22% Y |