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