Goizet, 2011: Overview of all reported HSP-REEP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
FRA
3
19
Yes
Spastic paraplegia
Spasticity, lower limb
-Lower limb amyotrophy
Muscle weakness, upper limb
Dysphagia
Upper limb amyotrophy
Show more (+3)
n.a.
p.Pro19Leu: het
Yes
n.a.
FRA
35
54
Yes
Spastic paraplegia
Spasticity, lower limb
-Lower limb amyotrophy
n.a.
Yes
n.a.
FRA
1
45
Yes
-Lower limb amyotrophy
Spasticity, lower limb
Spastic paraplegia
n.a.
c.106-4A>G: het
No
n.a.
FRA
50
56
Yes
Spastic paraplegia
Spasticity, lower limb
n.a.
p.Tyr66*: het
Yes
n.a.
FRA
2
74
Yes
-Lower limb amyotrophy
Spasticity, lower limb
Spastic paraplegia
n.a.
c.183-2A>G: het
Yes
n.a.
FRA
16
49
Yes
Spasticity, upper limb
Spastic paraplegia
Spasticity, lower limb
n.a.
p.Ser23Phe: het
No
n.a.
FRA
15
34
Yes
Spastic paraplegia
Spasticity, lower limb
n.a.
p.Trp42Arg: het
Yes
n.a.
FRA
35
80
Yes
Spastic paraplegia
-Lower limb amyotrophy
Spasticity, lower limb
n.a.
p.Tyr66*: het
Yes
n.a.
FRA
1
39
Yes
Spasticity, lower limb
Muscle weakness, upper limb
Spasticity, upper limb
Spastic paraplegia
Upper limb amyotrophy
Show more (+2)
n.a.
No
n.a.
FRA
5
47
Yes
Spasticity, lower limb
Spastic paraplegia
n.a.
c.106-4A>G: het