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