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