Table 1.
Clinical characterizations of included LBSL patients.
| LBSL patient | Mutation 1 | Mutation 2 | Sex | Onset age (year) | Age at follow-up (year) | GMFCS* | MACS& | SARA score# | MRI loes scoreω | |
|---|---|---|---|---|---|---|---|---|---|---|
| MIS | 1A | c.753G > T (p.M251I) | c.228-20delTTinsC (p.R76Sfs*5) | F | 1.5 | 10 | I | I | 10.5 | 10 |
| 1B | c.473A > T (p.E158V) | c.829G > A (p.E277K) | M | 0.75 | 1.5 | II | II | N/A | 7 | |
| 1C | c.265C > T (p.L89F) | c.492 + 2 T > C (p.M134_K165 del) | F | 5 | 10 | I | I | 14.5 | 22 | |
| 1D | c.228-20delTTinsC (p.R76Sfs*5) | ? | M | 3 | 7 | I | I | 13.5 | 13 | |
| SPLICE | 2A | c.228-20delTTinsC (p.R76Sfs*5) | c.492 + 2 T > C (p.M134_K165 del) | M | 0.83 | 13 | II | II | UNK | UNK |
| 2B | c.228-17C > G | c.492 + 2 T > C (p.M134_K165 del) | M | 0 | 9 | I | I | 6.5 | 3 | |
| 2C | c.228-17C > G | c.492 + 2 T > C (p.M134_K165 del) | M | 5 | 5 | I | I | 4.5 | 7.5 | |
UNK Unknown because patient is international/not enrolled in ongoing natural history study, N/A Not applicable due to age too young to participate in the test.
*Gross Motor Classification Scale (I–V most severe).
&Manual Ability Classification Scale (I–V most severe).
#Standardized Assessment and Rating of Ataxia Scale (0–40 most severe).
ΩModified Loes Score (0–40 most severe).