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