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