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