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
Spastic gait
Pes cavus
Babinski sign
Abnormality of the bladder
Show more (+2)
n.a.
p.Glu112*: het
Yes
n.a.
n.a.
31
32
n.a.
Pes cavus
Spasticity, lower limb
Abnormality of the bladder
Babinski sign
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
20
20
n.a.
Hyperreflexia in upper limbs
Pes cavus
Spasticity, lower limb
Babinski sign
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
10
42
n.a.
Babinski sign
Pes cavus
Spasticity, lower limb
Abnormality of the bladder
Spastic gait
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.
Pes cavus
Spastic gait
Lower limb muscle weakness
Babinski sign
Abnormality of the bladder
Spasticity, lower limb
Show more (+3)
n.a.
p.Glu112*: het
No
n.a.
n.a.
n.a.
74
n.a.
Spastic gait
Spasticity, upper limb
Hyporeflexia of lower limbs
n.a.
p.Glu112*: het
No
n.a.
n.a.
12
14
n.a.
Pes cavus
Spastic gait
Babinski sign
Spasticity, lower limb
Show more (+1)
n.a.
p.Glu112*: het
No
n.a.
n.a.
41
52
n.a.
Spastic gait
Spasticity, lower limb
Lower limb muscle weakness
Babinski sign
Abnormality of the bladder
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