| 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.
|
Spasticity, lower limb
-Lower limb amyotrophy Impaired vibratory sensation Peripheral neuropathy on nerve conduction studies Lower limb muscle weakness Babinski sign Hyporeflexia of upper limbs Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
44
|
n.a.
|
Hyperreflexia in upper limbs
Babinski sign -Pure or uncomplicated Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
43
|
50
|
n.a.
|
Babinski sign
Spasticity, lower limb -Pure or uncomplicated |
n.a.
|
|
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.
|
Lower limb muscle weakness
-Pure or uncomplicated Abnormality of the skeletal system Spasticity, lower limb Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PRT
|
20
|
45
|
n.a.
|
-Pure or uncomplicated
Hyperreflexia in upper limbs Spasticity, lower limb Babinski sign Show more (+1) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
12
|
48
|
n.a.
|
Hyperreflexia in upper limbs
Spasticity, lower limb -Pure or uncomplicated Babinski sign 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.
|
Cognitive impairment
Wheelchair Lower limb muscle weakness Spasticity, lower limb Inability to walk Pes cavus Babinski sign Abnormality of the skeletal system Show more (+5) |
n.a.
|