Table 3 Clinical features of ALS patients with RDVs in the KIF1A gene
From: Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
Patient ID | Sample ID | Amino acid change | Sex | Family history | Age at onset (years) | Survival time (months) | Alive (Y/N) | Site of onset | Cognition impairment | Sensory |
|---|---|---|---|---|---|---|---|---|---|---|
RDV location (from CC1 to CC2) | ||||||||||
P1 | A148 | R370C | M | S | 59 | NA | NA | Spinal | NA | − |
RDV location (between CC3 and PH) | ||||||||||
P2 | A981 | Y799C | M | S | 56 | 50 | N | Spinal | + | − |
P3 | A125 | R1100C | F | S | 66 | 28 | N | Spinal | NA | + |
P4 | A707 | R1105Q | M | AD | 40 |  > 84 | Y | Spinal | − | + |
P5 | A054 | R1356Q | F | S | 63 |  > 42 | Y | Spinal | − | + |
RDV location (PH domain) | ||||||||||
P6 | A737 | P1587L | M | S | 59 |  > 56 | Y | Spinal | + | + |
P7 | A342 | P1587L | M | S | 50 | > 41 | Y | Spinal | − | + |
P8 | A893 | P1587L | M | S | 67 | 29 | N | Bulbar | − | + |
P9 | A860 | A1643V | M | AD | 50 | 32 | N | Spinal | − | − |
P10 | A331 | R1689W | M | S | 57 | > 9 | Y | Spinal | − | − |