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.
Spastic gait
Abnormality of the skeletal system
Lower limb muscle weakness
Spasticity, lower limb
Hyperreflexia in upper limbs
Pes cavus
Show more (+3)
n.a.
No
n.a.
BGR
2
10
n.a.
Spastic gait
Spasticity, lower limb
-Pure or uncomplicated
Abnormality of the bladder
Show more (+1)
n.a.
No
n.a.
BGR
24
57
n.a.
Spastic gait
-Pure or uncomplicated
Spasticity, lower limb
n.a.
p.Cys171*: het
Yes
n.a.
BGR
17
18
n.a.
Spasticity, lower limb
-Pure or uncomplicated
Spastic gait
n.a.
No
n.a.
BGR
14
31
n.a.
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spastic gait
Cognitive impairment
Spasticity, lower limb
Abnormality of the skeletal system
Pes cavus
Show more (+4)
n.a.
Yes
n.a.
BGR
35
40
n.a.
Spastic gait
-Pure or uncomplicated
Abnormality of the bladder
Pes cavus
Hyperreflexia in upper limbs
Spasticity, lower limb
Show more (+3)
n.a.
c.683-1G>A: het
No
n.a.
BGR
2
12
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Lower limb muscle weakness
Spastic gait
Pes cavus
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.
Spastic gait
-Pure or uncomplicated
Spasticity, lower limb
Hyperreflexia in upper limbs
Abnormality of the bladder
Lower limb muscle weakness
Show more (+3)
n.a.