| 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.
|
Impaired vibratory sensation
Peripheral neuropathy on nerve conduction studies Hyporeflexia of upper limbs Cognitive impairment -Lower limb amyotrophy Babinski sign Spasticity, lower limb Lower limb muscle weakness Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
44
|
n.a.
|
-Pure or uncomplicated
Babinski sign Hyperreflexia in upper limbs 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.
|
Babinski sign
Spasticity, lower limb -Pure or uncomplicated |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
49
|
n.a.
|
Spasticity, lower limb
Abnormality of the skeletal system Lower limb muscle weakness -Pure or uncomplicated Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PRT
|
20
|
45
|
n.a.
|
Babinski sign
Hyperreflexia in upper limbs Spasticity, lower limb -Pure or uncomplicated 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.
|
-Pure or uncomplicated
Spasticity, lower limb Babinski sign |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
n.a.
|
Wheelchair
Inability to walk Pes cavus Babinski sign Abnormality of the skeletal system Spasticity, lower limb Lower limb muscle weakness Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
TUR
|
3
|
15
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Babinski sign |
n.a.
|
|
Yes
|
♂
|
n.a.
|
ITA
|
13
|
33
|
n.a.
|
Hyperreflexia in upper limbs
Walking aids -Pure or uncomplicated Babinski sign Spasticity, lower limb Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
20
|
34
|
n.a.
|
Babinski sign
-Pure or uncomplicated Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
41
|
46
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Babinski sign |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
10
|
31
|
n.a.
|
Hyperreflexia in upper limbs
Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
34
|
47
|
n.a.
|
Babinski sign
Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Walking aids Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
28
|
36
|
n.a.
|
Hyperreflexia in upper limbs
Spasticity, lower limb -Pure or uncomplicated Babinski sign Show more (+1) |
n.a.
|