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