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.
Pes cavus
Spastic gait
Spasticity, lower limb
-Pure or uncomplicated
Show more (+1)
n.a.
p.Cys171*: het
No
n.a.
BGR
6
13
n.a.
Abnormality of the skeletal system
Pes cavus
Lower limb muscle weakness
Spasticity, lower limb
Spastic gait
Hyperreflexia in upper limbs
Show more (+3)
n.a.
No
n.a.
BGR
2
10
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Abnormality of the bladder
Spastic gait
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.
Abnormality of the skeletal system
Cognitive impairment
Pes cavus
Spastic gait
Spasticity, lower limb
Lower limb muscle weakness
Hyperreflexia in upper limbs
Show more (+4)
n.a.
Yes
n.a.
BGR
35
40
n.a.
Spastic gait
-Pure or uncomplicated
Pes cavus
Abnormality of the bladder
Spasticity, lower limb
Hyperreflexia in upper limbs
Show more (+3)
n.a.
c.683-1G>A: het
No
n.a.
BGR
2
12
n.a.
Lower limb muscle weakness
Spasticity, lower limb
-Pure or uncomplicated
Pes cavus
Spastic gait
Show more (+2)
n.a.
No
n.a.
BGR
55
57
n.a.
Spasticity, lower limb
-Pure or uncomplicated
Spastic gait
n.a.
c.683-1G>A: het
Yes
n.a.
BGR
7
42
n.a.
Lower limb muscle weakness
Spastic gait
Hyperreflexia in upper limbs
-Pure or uncomplicated
Abnormality of the bladder
Spasticity, lower limb
Show more (+3)
n.a.