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