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.
-Pure or uncomplicated
Pes cavus
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
Hyporeflexia of upper limbs
Cognitive impairment
Impaired vibratory sensation
Spasticity, lower limb
Babinski sign
-Lower limb amyotrophy
Lower limb muscle weakness
Show more (+5)
n.a.
Yes
n.a.
FRA
35
44
n.a.
Spasticity, lower limb
-Pure or uncomplicated
Babinski sign
Hyperreflexia in upper limbs
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.
-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
Babinski sign
-Pure or uncomplicated
Spasticity, lower limb
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.
Spasticity, lower limb
Babinski sign
-Pure or uncomplicated
n.a.
Yes
n.a.
FRA
n.a.
n.a.
n.a.
Abnormality of the skeletal system
Lower limb muscle weakness
Wheelchair
Inability to walk
Pes cavus
Cognitive impairment
Babinski sign
Spasticity, lower limb
Show more (+5)
n.a.