| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
FRA
|
4
|
22
|
n.a.
|
Hyperreflexia in upper limbs
Spastic gait Babinski sign |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
1
|
27
|
n.a.
|
n.a.
|
||
No
|
♀
|
C
|
FRA
|
n.a.
|
63
|
n.a.
|
Hyperreflexia in upper limbs
Spastic gait Wheelchair Inability to walk Impaired vibratory sensation Global developmental delay Babinski sign Abnormality of the bladder Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
0
|
43
|
n.a.
|
Cerebellar atrophy
Global developmental delay Mri brain other abnormalities Impaired vibratory sensation Inability to walk Spastic gait Abnormality of the bladder Babinski sign Mri spine abnormalities Wheelchair Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
4
|
47
|
n.a.
|
Global developmental delay
Mri brain other abnormalities Hyperreflexia in upper limbs Impaired vibratory sensation Babinski sign Inability to walk Mri spine abnormalities Abnormality of the bladder Cognitive impairment Spastic gait Wheelchair 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.
|
Hyperreflexia in upper limbs
Global developmental delay Impaired vibratory sensation Abnormality of the bladder Babinski sign Spastic gait Walking aids Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
FRA
|
n.a.
|
39
|
n.a.
|
Inability to walk
Tip-toe gait Impaired vibratory sensation Hyperreflexia in upper limbs Wheelchair Babinski sign Spastic gait Global developmental delay 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.
|
Impaired vibratory sensation
Abnormality of the cerebral white matter Cerebellar atrophy Global developmental delay Mri brain other abnormalities Walking aids Abnormality of the bladder Hyperreflexia in upper limbs Mri spine abnormalities Babinski sign Spastic gait Show more (+8) |
n.a.
|