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