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
Abnormality of the bladder
Hyperreflexia in upper limbs
Spasticity, lower limb
Babinski sign
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
58
63
No
Hyperreflexia in upper limbs
Spasticity, lower limb
Lower limb muscle weakness
Spasticity, upper limb
Babinski sign
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
Wheelchair
Pes cavus
Babinski sign
Spasticity, lower limb
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
Spasticity, lower limb
Babinski sign
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
Lower limb muscle weakness
Spasticity, lower limb
Walking aids
n.a.