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