family No. | SACS variants | Sensory nerve conduction sural or radial nerve | Motor nerve conduction tibial or ulnar nerve | Motor evoked potentials | Cerebellar atrophy | Arachnoid cyst posterior fossa | T2 hypo-intensities pons | T2 hyper-intensities lateral pons/MCP | Thickening of MCP | Bilateral parietal atrophy | Thin corpus callosum (MRI) |
---|---|---|---|---|---|---|---|---|---|---|---|
patients with 2 likely pathogenic SACS variants | |||||||||||
#1 | p.[Leu3102Phefs*8];[Leu3102Phefs*8] | Sur: no SNAP Rad: no SNAP | Tib:reduced CMAP+MNCV Uln: reduced MNCV | prolonged UE+LE | +, vermal | + | + | + | + | + | + |
#2 | p.[Arg728*];[Phe4352Leufs*11] | Sur: no SNAP Rad: no SNAP | Tib: reduced MNCV Uln: reduced MNCV | prologned UE, not evoked LE | +, pancerebellar | + | + | + | + | + | + |
#3 | p.[Gly1257*];[Lys2862*] | Sur: no SNAP Rad: no SNAP | Tib: no MSAP Uln: reduced MNCV | prolonged UE, not evoked LE | +, pancerebellar | + | + | + | + | + | + |
#4 | p.[Ile3848del];[Ile3848del] | Sur: no SNAP Rad: reduced CMAP+SNCV | Tib: reduced MNCV Uln: reduced MNCV | prolonged UE, not evoked LE | -, only asymmetry of cerebellar hemispheres | + | + | + | + | - | + |
#5 | p.[Leu796Tyrfs*13];[L3995dup] | Sur: no SNAP Rad: reduced CMAP+SNCV | Tib: reduced CMAP+MNCV Uln: reduced MNCV | prolonged UE, not evoked LE | +, vermal | + | + | + | + | - | + |
#6 | p.[Arg3875His]; [Leu549_Leu552del]; [Ser4513Asn] | Sur: reduced CMAP+SNCV Rad: reduced CMAP+SNCV | Tib: reduced CMAP+MNCV Uln: reduced MNCV | prolonged UE, not evoked LE | +, vermal | + | + | + | + | + | - |
#7 | p.[Val1849Serfs*48]; [Tyr4201*] | Sur: reduced CMAP+SNCV | Tib: reduced CMAP+MNCV | not evoked LE | +, pancerebellar | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. |
#8 | p.[Arg2426Pro]; [Tyr2975Phefs*29] | Sur: normal | Tib: normal | not done | +, vermal | - | + | + | + | - | - |
#9 | p.[Gln1652*]; [Gln1709*] | Sur: no SNAP Rad: reduced SNAP+SNCV | Tib: reduced CMAP+MNCV Uln: reduced MNCV | not evoked LE | +, pancerebellar | - | + | + | + | + | - |
patients with 2 SACS variants of unknown significance | |||||||||||
#10 | p.[Thr458Ile]; [Thr458Ile] | Sur: normal | Tib: normal | normal UE+LE | slight vermal atrophy, herniation of tonsils | + | - | - | - | - | + |
#11 | p.[Thr458Ile]; [Val995Phe] | Sur: red SNAP Rad: red SNAP | Tib: red CMAP | prolonged UE+LE | +, pancerebellar | - | - | - | - | + | + |