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