| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
4
|
22
|
n.a.
|
Spastic gait
Hyperreflexia in upper limbs Babinski sign |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
1
|
27
|
n.a.
|
n.a.
|
||
No
|
♀
|
C
|
FRA
|
n.a.
|
63
|
n.a.
|
Global developmental delay
Hyperreflexia in upper limbs Wheelchair Spastic gait Impaired vibratory sensation Inability to walk Babinski sign Abnormality of the bladder Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
0
|
43
|
n.a.
|
Mri spine abnormalities
Impaired vibratory sensation Spastic gait Global developmental delay Abnormality of the bladder Inability to walk Wheelchair Cerebellar atrophy Babinski sign Mri brain other abnormalities Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
4
|
47
|
n.a.
|
Wheelchair
Hyperreflexia in upper limbs Inability to walk Abnormality of the bladder Mri spine abnormalities Cognitive impairment Babinski sign Spastic gait Mri brain other abnormalities Global developmental delay Impaired vibratory sensation 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.
|
Global developmental delay
Babinski sign Abnormality of the bladder Spastic gait Impaired vibratory sensation Walking aids Hyperreflexia in upper limbs Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
n.a.
|
39
|
n.a.
|
Wheelchair
Impaired vibratory sensation Tip-toe gait Global developmental delay Babinski sign Hyperreflexia in upper limbs Inability to walk Spastic gait Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
n.a.
|
49
|
n.a.
|
Hyperreflexia in upper limbs
Impaired vibratory sensation |
n.a.
|
|
Yes
|
♂
|
C
|
FRA
|
n.a.
|
53
|
n.a.
|
Cerebellar atrophy
Spastic gait Abnormality of the cerebral white matter Impaired vibratory sensation Global developmental delay Hyperreflexia in upper limbs Babinski sign Walking aids Abnormality of the bladder Mri spine abnormalities Mri brain other abnormalities Show more (+8) |
n.a.
|