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