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
Babinski sign
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
n.a.
2
20
No
Babinski sign
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
n.a.
6
32
No
Hyperreflexia in upper limbs
Abnormality of the bladder
Babinski sign
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
58
63
No
Hyperreflexia in upper limbs
Babinski sign
Lower limb muscle weakness
Spasticity, lower limb
Spasticity, upper limb
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
39
60
No
Hyperreflexia in upper limbs
Spasticity, lower limb
Walking aids
Peripheral neuropathy on nerve conduction studies
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
Babinski sign
Lower limb muscle weakness
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
n.a.
44
46
No
Spasticity, lower limb
Babinski sign
Spasticity, upper limb
Lower limb muscle weakness
Hyperreflexia in upper limbs
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
52
63
No
Spasticity, lower limb
Walking aids
Lower limb muscle weakness
n.a.