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