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