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
Abnormality of the bladder
Pes cavus
Spasticity, lower limb
Show more (+1)
n.a.
p.Glu112*: het
No
♂
n.a.
n.a.
20
20
n.a.
Hyperreflexia in upper limbs
Babinski sign
Spasticity, lower limb
Pes cavus
Show more (+1)
n.a.
p.Glu112*: het
No
♀
n.a.
n.a.
10
42
n.a.
Pes cavus
Spasticity, lower limb
Spastic gait
Abnormality of the bladder
Hyperreflexia in upper limbs
Babinski sign
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
Babinski sign
Spasticity, lower limb
Abnormality of the bladder
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.
Spasticity, lower limb
Abnormality of the bladder
Lower limb muscle weakness
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