McDermott, 2006: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
No
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
n.a.
n.a.
2
20
No
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
n.a.
n.a.
6
32
No
Hyperreflexia in upper limbs
Babinski sign
Abnormality of the bladder
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
58
63
No
Spasticity, upper limb
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spasticity, lower limb
Babinski sign
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
39
60
No
Hyperreflexia in upper limbs
Peripheral neuropathy on nerve conduction studies
Walking aids
Spasticity, lower limb
Babinski sign
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
30
34
No
Spasticity, lower limb
Hyperreflexia in upper limbs
Babinski sign
Pes cavus
Wheelchair
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
45
45
No
Walking aids
n.a.
Yes
n.a.
n.a.
n.a.
60
79
No
Lower limb muscle weakness
Babinski sign
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
n.a.
44
46
No
Hyperreflexia in upper limbs
Babinski sign
Spasticity, upper limb
Spasticity, lower limb
Lower limb muscle weakness
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
52
63
No
Lower limb muscle weakness
Walking aids
Spasticity, lower limb
n.a.