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
Cognitive impairment
Dysphagia
-Lower limb amyotrophy
Spasticity, lower limb
Spastic paraplegia
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n.a.
No
n.a.
FRA
25
48
Yes
Spasticity, lower limb
Spastic paraplegia
n.a.
No
n.a.
FRA
30
68
Yes
Muscle weakness, upper limb
Tremor, limb
Spastic paraplegia
Spasticity, lower limb
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n.a.
No
n.a.
FRA
3
32
Yes
Spasticity, lower limb
Spastic paraplegia
n.a.
p.Asp56Asn: het
Yes
n.a.
FRA
30
45
Yes
Tremor, limb
Spasticity, lower limb
Spastic paraplegia
n.a.
Yes
n.a.
FRA
4
29
Yes
Spasticity, lower limb
Spastic paraplegia
n.a.
Yes
n.a.
FRA
18
49
Yes
Spastic paraplegia
Spasticity, lower limb
n.a.
p.Trp42Arg: het
No
n.a.
FRA
1
20
Yes
Spastic paraplegia
Spasticity, lower limb
n.a.
c.106-4A>G: het
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.
p.Asp56Asn: het