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