| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
4
|
22
|
n.a.
|
Babinski sign
Spastic gait Hyperreflexia in upper limbs |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
1
|
27
|
n.a.
|
n.a.
|
||
No
|
♀
|
C
|
FRA
|
n.a.
|
63
|
n.a.
|
Inability to walk
Global developmental delay Impaired vibratory sensation Wheelchair Babinski sign Spastic gait Abnormality of the bladder Hyperreflexia in upper limbs Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
0
|
43
|
n.a.
|
Global developmental delay
Abnormality of the bladder Babinski sign Wheelchair Inability to walk Impaired vibratory sensation Mri spine abnormalities Spastic gait Cerebellar atrophy Mri brain other abnormalities Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
4
|
47
|
n.a.
|
Impaired vibratory sensation
Spastic gait Abnormality of the bladder Global developmental delay Inability to walk Babinski sign Mri brain other abnormalities Mri spine abnormalities Hyperreflexia in upper limbs Cognitive impairment Wheelchair Show more (+8) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
n.a.
|
24
|
n.a.
|
Babinski sign
Spastic gait |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
5
|
45
|
n.a.
|
Spastic gait
Impaired vibratory sensation Global developmental delay Walking aids Hyperreflexia in upper limbs Babinski sign Abnormality of the bladder Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
n.a.
|
39
|
n.a.
|
Wheelchair
Impaired vibratory sensation Inability to walk Global developmental delay Hyperreflexia in upper limbs Tip-toe gait Spastic gait Babinski sign Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
n.a.
|
49
|
n.a.
|
Impaired vibratory sensation
Hyperreflexia in upper limbs |
n.a.
|
|
Yes
|
♂
|
C
|
FRA
|
n.a.
|
53
|
n.a.
|
Walking aids
Mri brain other abnormalities Mri spine abnormalities Hyperreflexia in upper limbs Cerebellar atrophy Impaired vibratory sensation Babinski sign Abnormality of the cerebral white matter Abnormality of the bladder Global developmental delay Spastic gait Show more (+8) |
n.a.
|