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