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