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