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.
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
FRA
|
70
|
79
|
n.a.
|
Peripheral neuropathy on nerve conduction studies
Cognitive impairment Hyporeflexia of upper limbs -Lower limb amyotrophy Impaired vibratory sensation Spasticity, lower limb Babinski sign Lower limb muscle weakness Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
44
|
n.a.
|
Babinski sign
Hyperreflexia in upper limbs Spasticity, lower limb -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.
|
|
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
Abnormality of the skeletal system Babinski sign Spasticity, lower limb -Pure or uncomplicated Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PRT
|
20
|
45
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Babinski sign Hyperreflexia in upper limbs 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.
|
Babinski sign
-Pure or uncomplicated Spasticity, lower limb |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Wheelchair Inability to walk Lower limb muscle weakness Abnormality of the skeletal system Spasticity, lower limb Cognitive impairment Pes cavus Show more (+5) |
n.a.
|