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
Spasticity, lower limb
Abnormality of the bladder
Babinski sign
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
58
63
No
Spasticity, lower limb
Lower limb muscle weakness
Hyperreflexia in upper limbs
Spasticity, upper limb
Babinski sign
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
39
60
No
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies
Walking aids
Babinski sign
Hyperreflexia in upper limbs
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
30
34
No
Spasticity, lower limb
Babinski sign
Wheelchair
Pes cavus
Hyperreflexia in upper limbs
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
Babinski sign
Spasticity, lower limb
Lower limb muscle weakness
n.a.
Yes
n.a.
n.a.
n.a.
44
46
No
Hyperreflexia in upper limbs
Spasticity, upper limb
Spasticity, lower limb
Babinski sign
Lower limb muscle weakness
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
52
63
No
Spasticity, lower limb
Lower limb muscle weakness
Walking aids
n.a.