Table 1 Summary of clinical presentations and novel mutations in sporadic SPG11-related HSP patients in this study
Patient 1 | Patient 2 | Patient 3 | Patient 4 | ||
|---|---|---|---|---|---|
Inheritance | Sporadic | Sporadic | Sporadic | Sporadic | |
Sex | F | F | M | M | |
Schooling years | 14 | 16 | 15 | 14 | |
Initial symptoms | Spasticity | Spasticity | Spasticity | Spasticity | |
UL reflexes | ++ | ++ | ++ | ++ | |
LL reflexes | ++++ | ++++ | +++ | +++ | |
SPRS | 9 | 10 | 7 | 7 | |
NPI | 0 | 0 | 0 | 0 | |
MMSE | 30/30 | 30/30 | 29/30 | 28/30 | |
MoCA | 22/30 | 18/30 | 16/30 | 17/30 | |
Executive function | 2/5 | 1/5 | 1/5 | 2/5 | |
Delayed recall | 2/5 | 2/5 | 1/5 | 1/5 | |
Abstraction | 1/2 | 0/2 | 0/2 | 0/2 | |
Language | 2/3 | 1/3 | 0/3 | 0/3 | |
Naming | 3/3 | 3/3 | 3/3 | 3/3 | |
Attention | 6/6 | 5/6 | 5/6 | 6/6 | |
Orientation | 6/6 | 6/6 | 6/6 | 5/6 | |
MRI | |||||
TCC | + | + | + | + | |
PWM changes | – | – | – | – | |
Cortical atrophy | – | – | – | – | |
Ventricular Dilation | – | – | – | – | |
Cerebellar atrophy | – | – | – | – | |
Spinal cord | – | – | – | – | |
Novel mutations | |||||
Inheritance | Homozygous | Homozygous | Compound heterozygous | Homozygous | |
Location | exon 28 | exon 2 | exon 30 | intro 31 | exon 30 |
Mutation | c.4834C > T chr15:44881522 | c.316G > C chr15:44952756 | c.5609 T > A chr15:44876741 | c.5867-1G > T chr15:44867240 | c.5137C > T chr15:44876741 |
Consequence | Stop codon | Missense mutation | Stop codon | Frameshift mutation | Stop codon |
Effect | p.Q1612X | p.A106P | p.L1870X | p.Q1713X | |
ACMG criteria | PVS1 + PM2 + PM3 (pathogenic) | PM2 + PM3 (VUS) | PVS1 + PM2 + PM3 (pathogenic) | PVS1 + PM2 + PM3 (pathogenic) | PVS1 + PM2 + PM3 (pathogenic) |