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