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