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.
|
Hyporeflexia of upper limbs
Spasticity, lower limb Lower limb muscle weakness Cognitive impairment Peripheral neuropathy on nerve conduction studies Impaired vibratory sensation -Lower limb amyotrophy Babinski sign Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
44
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Hyperreflexia in upper limbs Babinski sign 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.
|
Spasticity, lower limb
-Pure or uncomplicated Babinski sign |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
35
|
49
|
n.a.
|
Abnormality of the skeletal system
Babinski sign Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
PRT
|
20
|
45
|
n.a.
|
-Pure or uncomplicated
Babinski sign Hyperreflexia in upper limbs Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
12
|
48
|
n.a.
|
Hyperreflexia in upper limbs
-Pure or uncomplicated Spasticity, lower limb Babinski sign Show more (+1) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
6
|
26
|
n.a.
|
-Pure or uncomplicated
Babinski sign Spasticity, lower limb |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
n.a.
|
Abnormality of the skeletal system
Wheelchair Babinski sign Cognitive impairment Inability to walk Pes cavus Lower limb muscle weakness Spasticity, lower limb Show more (+5) |
n.a.
|