Nicholas, 2004: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
17
64
n.a.
Spasticity, lower limb
Abnormality of the bladder
Spastic gait
Babinski sign
Pes cavus
Show more (+2)
n.a.
p.Glu112*: het
Yes
n.a.
n.a.
31
32
n.a.
Spasticity, lower limb
Babinski sign
Abnormality of the bladder
Pes cavus
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
20
20
n.a.
Hyperreflexia in upper limbs
Spasticity, lower limb
Pes cavus
Babinski sign
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
10
42
n.a.
Pes cavus
Spastic gait
Abnormality of the bladder
Babinski sign
Spasticity, lower limb
Hyperreflexia in upper limbs
Show more (+3)
n.a.
p.Glu112*: het
No
n.a.
n.a.
n.a.
46
n.a.
Spasticity, lower limb
n.a.
p.Glu112*: het
No
n.a.
n.a.
35
53
n.a.
Abnormality of the bladder
Spasticity, lower limb
Pes cavus
Spastic gait
Lower limb muscle weakness
Babinski sign
Show more (+3)
n.a.
p.Glu112*: het
No
n.a.
n.a.
n.a.
74
n.a.
Hyporeflexia of lower limbs
Spasticity, upper limb
Spastic gait
n.a.
p.Glu112*: het
No
n.a.
n.a.
12
14
n.a.
Spasticity, lower limb
Babinski sign
Spastic gait
Pes cavus
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
41
52
n.a.
Lower limb muscle weakness
Babinski sign
Abnormality of the bladder
Spasticity, lower limb
Spastic gait
Show more (+2)
n.a.
p.Glu112*: het
No
n.a.
n.a.
n.a.
32
n.a.
n.a.
n.a.
p.Glu112*: het