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