Vandebona, 2012: 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.
O
AUS
25
n.a.
n.a.
Spasticity, lower limb
-Pure or uncomplicated
Lower limb muscle weakness
Impaired vibratory sensation
Abnormality of the bladder
Hyperreflexia in upper limbs
Walking aids
-Lower limb amyotrophy
Spastic gait
Show more (+6)
n.a.
Yes
n.a.
O
AUS
20
54
n.a.
-Pure or uncomplicated
Walking aids
Abnormality of the bladder
Babinski sign
Spasticity, lower limb
Spastic gait
Show more (+3)
n.a.
Yes
n.a.
O
AUS
4
73
n.a.
-Pure or uncomplicated
Lower limb muscle weakness
Abnormality of the bladder
Hyperreflexia in upper limbs
Babinski sign
Spasticity, lower limb
Impaired vibratory sensation
Walking aids
-Lower limb amyotrophy
Spastic gait
Show more (+7)
n.a.
p.Trp148*: het
Yes
n.a.
O
AUS
41
65
n.a.
Walking aids
Hyperreflexia in upper limbs
-Pure or uncomplicated
Spastic gait
Wheelchair
Babinski sign
Lower limb muscle weakness
Muscle weakness, upper limb
Spasticity, lower limb
Show more (+6)
n.a.
Yes
n.a.
O
AUS
2
48
n.a.
Muscle weakness, upper limb
Abnormality of the bladder
Hyperreflexia in upper limbs
Walking aids
Spasticity, lower limb
Wheelchair
Babinski sign
Spastic gait
Impaired vibratory sensation
Lower limb muscle weakness
Show more (+7)
n.a.
Yes
n.a.
O
AUS
2
60
n.a.
Babinski sign
-Pure or uncomplicated
Spastic gait
Impaired vibratory sensation
Walking aids
Abnormality of the bladder
Lower limb muscle weakness
Spasticity, lower limb
Hyperreflexia in upper limbs
Show more (+6)
n.a.
Yes
n.a.
O
AUS
n.a.
55
n.a.
-Pure or uncomplicated
Spastic gait
Babinski sign
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spasticity, lower limb
Impaired vibratory sensation
Walking aids
Abnormality of the bladder
Show more (+6)
n.a.
Yes
n.a.
O
AUS
32
38
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Spastic gait
Hyperreflexia in upper limbs
Show more (+1)
n.a.
Yes
n.a.
O
AUS
10
48
n.a.
Lower limb muscle weakness
Spastic gait
Babinski sign
Spasticity, lower limb
Ataxia, limb
Impaired vibratory sensation
Spasticity, upper limb
Walking aids
Hyperreflexia in upper limbs
Abnormality of the bladder
Show more (+7)
n.a.
Yes
n.a.
O
AUS
n.a.
n.a.
n.a.
Hyperreflexia in upper limbs
Lower limb muscle weakness
-Pure or uncomplicated
Babinski sign
Spasticity, lower limb
Spastic gait
-Lower limb amyotrophy
Walking aids
Show more (+5)
n.a.