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
Abnormality of the bladder
Babinski sign
Hyperreflexia in upper limbs
Spasticity, lower limb
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
Walking aids
Peripheral neuropathy on nerve conduction studies
Babinski sign
Hyperreflexia in upper limbs
Spasticity, lower limb
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
30
34
No
Babinski sign
Spasticity, lower limb
Pes cavus
Hyperreflexia in upper limbs
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
Spasticity, upper limb
Hyperreflexia in upper limbs
Babinski sign
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
Spasticity, lower limb
Walking aids
n.a.