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