Depienne, 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.
FRA
n.a.
40
n.a.
Spasticity, lower limb
Pes cavus
-Pure or uncomplicated
Lower limb muscle weakness
Show more (+1)
n.a.
Yes
n.a.
FRA
70
79
n.a.
Impaired vibratory sensation
Peripheral neuropathy on nerve conduction studies
Hyporeflexia of upper limbs
Cognitive impairment
-Lower limb amyotrophy
Babinski sign
Spasticity, lower limb
Lower limb muscle weakness
Show more (+5)
n.a.
Yes
n.a.
FRA
35
44
n.a.
-Pure or uncomplicated
Babinski sign
Hyperreflexia in upper limbs
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
FRA
43
50
n.a.
Babinski sign
Spasticity, lower limb
-Pure or uncomplicated
n.a.
c.415+1G>A: het
Yes
n.a.
FRA
46
47
n.a.
Babinski sign
Spasticity, lower limb
-Pure or uncomplicated
n.a.
Yes
n.a.
FRA
35
49
n.a.
Spasticity, lower limb
Abnormality of the skeletal system
Lower limb muscle weakness
-Pure or uncomplicated
Babinski sign
Show more (+2)
n.a.
p.Arg581*: het
Yes
n.a.
PRT
20
45
n.a.
Babinski sign
Hyperreflexia in upper limbs
Spasticity, lower limb
-Pure or uncomplicated
Show more (+1)
n.a.
Yes
n.a.
FRA
12
48
n.a.
Hyperreflexia in upper limbs
-Pure or uncomplicated
Babinski sign
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
FRA
6
26
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
FRA
n.a.
n.a.
n.a.
Wheelchair
Inability to walk
Pes cavus
Babinski sign
Abnormality of the skeletal system
Spasticity, lower limb
Lower limb muscle weakness
Cognitive impairment
Show more (+5)
n.a.
Yes
n.a.
TUR
3
15
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
ITA
13
33
n.a.
Hyperreflexia in upper limbs
Walking aids
-Pure or uncomplicated
Babinski sign
Spasticity, lower limb
Show more (+2)
n.a.
c.415+1G>T: het
Yes
n.a.
FRA
20
34
n.a.
Babinski sign
-Pure or uncomplicated
Spasticity, lower limb
n.a.
Yes
n.a.
FRA
41
46
n.a.
-Pure or uncomplicated
Spasticity, lower limb
Babinski sign
n.a.
Yes
n.a.
FRA
10
31
n.a.
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spasticity, lower limb
-Pure or uncomplicated
Babinski sign
Show more (+2)
n.a.
Yes
n.a.
FRA
34
47
n.a.
Babinski sign
Lower limb muscle weakness
Spasticity, lower limb
-Pure or uncomplicated
Walking aids
Show more (+2)
n.a.
Yes
n.a.
FRA
28
36
n.a.
Hyperreflexia in upper limbs
Spasticity, lower limb
-Pure or uncomplicated
Babinski sign
Show more (+1)
n.a.