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
Babinski sign
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
n.a.
6
32
No
Spasticity, lower limb
Abnormality of the bladder
Hyperreflexia in upper limbs
Babinski sign
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
58
63
No
Spasticity, upper limb
Babinski sign
Spasticity, lower limb
Lower limb muscle weakness
Hyperreflexia in upper limbs
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
39
60
No
Babinski sign
Spasticity, lower limb
Walking aids
Peripheral neuropathy on nerve conduction studies
Hyperreflexia in upper limbs
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
30
34
No
Babinski sign
Hyperreflexia in upper limbs
Pes cavus
Spasticity, lower limb
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
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
n.a.
n.a.
44
46
No
Spasticity, lower limb
Spasticity, upper limb
Lower limb muscle weakness
Babinski sign
Hyperreflexia in upper limbs
Show more (+2)
n.a.
p.Ser245*: het
Yes
n.a.
n.a.
n.a.
52
63
No
Walking aids
Spasticity, lower limb
Lower limb muscle weakness
n.a.