|
| Patient | Nucleotide change | Amino acid change | Sex | Duration age | Age of onset | Walking achievement | Functional impairment | Spasticity | Increased reflexes | Dysarthria | MRI or intelligence | Literature |
|
| 1 | c.1496G>A | p.Arg499His | M | 12 y | 14 m | No | 6 | 3 | Exaggerated muscle stretch reflexes of both the upper and lower limbs | 9 y, lost ability to speak at 12 y | More pronounced hyperintense bilateral PLICs in FLAIR sequences | [26] |
| 2 | c.1496G>A | p.Arg499His | F | 36 y | <2 y | NA | 6 | 3 | NA | <6 y | Mild hyperintensities in corticospinal tracts (white arrows) in T2-weighted and FLAIR sequences | [27] |
| 3 | c.1496G>A | p.Arg499His | F | 13 y | 20 m | No | 5 | LL spasticity | Lower limb hyper-reflexia | <11 y | Intellectual disability | [28] |
| 4 | c.1496G>A | p.Arg499His | F | 5 y | 1 y | 22 m, hold on to furniture | 4 | NA | Yes | Early expressive language delays | Low-lying conus medullaris with minimal thickening of the filum terminale | [28] |
| 5 | c.1496G>A | p.Arg499His | M | 11 y | 1.5 y | 48 m, walk alone | 2 | NA | | No | NA | [29] |
| 6 | c.1496G>A | p.Arg499His | M | 3 y | 1 y | NA | NA | Spasticity | Lower extremity hyper-reflexia, Babinski sign | No | NA | [30] |
| 7 | c.1495C>T | p.Arg499Cys | M | 20 | 13 y | NA | 3 | 1 | LL increased; UL normal/yes | No | NA | [31] |
| 8 | c.1496G>A | p.Arg499His | M | >40 | Childhood | Limited walking without aid | 3 | 3 | Not determined | NA | NA | [31] |
| 9 | c.1495C>T | p.Arg499Cys | F | 60 | Childhood | NA | 6 | 3 | Lower limb increased; upper limb normal | NA | NA | [31] |
| 10 | c.1495C>T | p.Arg499Cys | NA | 63 | Childhood | Need help for daily life | 6 | 3 | LL, UL/bilateral | NA | NA | [32] |
| 11 | c.1495C>T | p.Arg499Cys | NA | 55 | 51 | Need help for daily life | 2 | 1 | LL, UL/bilateral | NA | NA | [32] |
| 12 | c.1495C>T | p.Arg499Cys | NA | 53 | Adolescence | Partially need help for daily life | 5 | 3 | LL, UL/bilateral | NA | Cortical and subcortial atrophy, nonspecific WMH | [32] |
| 13 | c.1495C>T | p.Arg499Cys | NA | 47 | 4 | Need help for daily life | 6 | 3 | LL, UL/bilateral | NA | Cortical atrophy | [32] |
| 14 | c.1495C>T | p.Arg499Cys | NA | 45 | 5 | None | 5 | 3 | LL, UL/bilateral | NA | NA | [32] |
| 15 | c.1495C>T | p.Arg499Cys | NA | 43 | Birth | Need help for daily life | 6 | 3 | LL/bilateral | NA | Cortical and subcortical atrophy | [32] |
| 16 | c.1495C>T | p.Arg499Cys | NA | 39 | Childhood | Partially need help for daily life | 6 | 3 | LL, UL/bilateral | NA | NA | [32] |
| 17 | c.1495C>T | p.Arg499Cys | NA | 29 | Birth | Partially need help for daily life | 3 | 3 | LL, UL/bilateral | NA | Normal | [32] |
| 18 | c.1495C>T | p.Arg499Cys | NA | 27 | 1 | Partially need help for daily life | 3 | 2 | LL/bilateral | NA | NA | [32] |
| 19 | c.1495C>T | p.Arg499Cys | NA | 24 | Childhood | Need help for daily life | 3 | 2 | LL/bilateral | NA | NA | [32] |
| 20 | c.1496G>A | p.Arg499His | F | 27 | Childhood | No | 6 | Yes | Lower limb increased, positive Babinski sign | Speech is slow, slurred, and the voice diminishes at 22 y | Thoracic spinal cord atrophy | This report |
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