Ivanova, 2006: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
n.a.
BGR
40
50
n.a.
-Pure or uncomplicated
Pes cavus
Spastic gait
Spasticity, lower limb
Show more (+1)
n.a.
p.Cys171*: het
No
♀
n.a.
BGR
6
13
n.a.
Spasticity, lower limb
Pes cavus
Lower limb muscle weakness
Spastic gait
Abnormality of the skeletal system
Hyperreflexia in upper limbs
Show more (+3)
n.a.
No
♂
n.a.
BGR
2
10
n.a.
Spasticity, lower limb
Abnormality of the bladder
Spastic gait
-Pure or uncomplicated
Show more (+1)
n.a.
No
♂
n.a.
BGR
24
57
n.a.
Spasticity, lower limb
Spastic gait
-Pure or uncomplicated
n.a.
p.Cys171*: het
Yes
♂
n.a.
BGR
17
18
n.a.
-Pure or uncomplicated
Spastic gait
Spasticity, lower limb
n.a.
No
♂
n.a.
BGR
14
31
n.a.
Spasticity, lower limb
Abnormality of the skeletal system
Pes cavus
Cognitive impairment
Spastic gait
Lower limb muscle weakness
Hyperreflexia in upper limbs
Show more (+4)
n.a.
Yes
♂
n.a.
BGR
35
40
n.a.
Abnormality of the bladder
Hyperreflexia in upper limbs
Pes cavus
Spastic gait
-Pure or uncomplicated
Spasticity, lower limb
Show more (+3)
n.a.
c.683-1G>A: het
No
♀
n.a.
BGR
2
12
n.a.
-Pure or uncomplicated
Pes cavus
Spasticity, lower limb
Spastic gait
Lower limb muscle weakness
Show more (+2)
n.a.
No
♀
n.a.
BGR
55
57
n.a.
Spastic gait
-Pure or uncomplicated
Spasticity, lower limb
n.a.
c.683-1G>A: het
Yes
♂
n.a.
BGR
7
42
n.a.
-Pure or uncomplicated
Hyperreflexia in upper limbs
Spastic gait
Lower limb muscle weakness
Spasticity, lower limb
Abnormality of the bladder
Show more (+3)
n.a.