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