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