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