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 |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
FRA
|
78
|
81
|
Yes
|
Spastic paraplegia
Dysphagia -Lower limb amyotrophy Cognitive impairment Spasticity, lower limb Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
FRA
|
25
|
48
|
Yes
|
Spasticity, lower limb
Spastic paraplegia |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
30
|
68
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
FRA
|
3
|
32
|
Yes
|
Spasticity, lower limb
Spastic paraplegia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
30
|
45
|
Yes
|
Spastic paraplegia
Tremor, limb Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
4
|
29
|
Yes
|
Spastic paraplegia
Spasticity, lower limb |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
18
|
49
|
Yes
|
Spastic paraplegia
Spasticity, lower limb |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
1
|
20
|
Yes
|
Spasticity, lower limb
Spastic paraplegia |
n.a.
|
|
No
|
♂
|
n.a.
|
FRA
|
6
|
40
|
Yes
|
Spasticity, lower limb
Spastic paraplegia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
5
|
56
|
Yes
|
Spasticity, lower limb
Spastic paraplegia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
3
|
19
|
Yes
|
Spasticity, lower limb
Muscle weakness, upper limb Dysphagia Upper limb amyotrophy Spastic paraplegia -Lower limb amyotrophy Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
35
|
54
|
Yes
|
-Lower limb amyotrophy
Spasticity, lower limb Spastic paraplegia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
1
|
45
|
Yes
|
Spasticity, lower limb
Spastic paraplegia -Lower limb amyotrophy |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
50
|
56
|
Yes
|
Spastic paraplegia
Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
2
|
74
|
Yes
|
Spasticity, lower limb
Spastic paraplegia -Lower limb amyotrophy |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
16
|
49
|
Yes
|
Spastic paraplegia
Spasticity, upper limb Spasticity, lower limb |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
15
|
34
|
Yes
|
Spastic paraplegia
Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
80
|
Yes
|
Spasticity, lower limb
-Lower limb amyotrophy Spastic paraplegia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
1
|
39
|
Yes
|
Spasticity, lower limb
Spasticity, upper limb Spastic paraplegia Upper limb amyotrophy Muscle weakness, upper limb Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
5
|
47
|
Yes
|
Spastic paraplegia
Spasticity, lower limb |
n.a.
|