Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
88
|
n.a.
|
Babinski sign
Impaired vibratory sensation Spasticity, lower limb Inability to walk Spastic gait Wheelchair Hyperreflexia in upper limbs Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
66
|
68
|
n.a.
|
Cognitive impairment
Peripheral neuropathy on nerve conduction studies Cerebellar atrophy Mri spine abnormalities Mri brain other abnormalities Impaired vibratory sensation Babinski sign Hyperreflexia in upper limbs Spastic gait Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
3
|
n.a.
|
Hyperreflexia in upper limbs
Abnormality of the bladder Impaired vibratory sensation Spasticity, lower limb Spastic gait Cognitive impairment Mri brain other abnormalities Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
30
|
45
|
n.a.
|
Babinski sign
Hyperreflexia in upper limbs Impaired vibratory sensation Abnormality of the bladder Spasticity, lower limb Mri brain other abnormalities Nerve conduction studies other abnormalities Spastic gait Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
1
|
9
|
n.a.
|
Spasticity, lower limb
Babinski sign Hyperreflexia in upper limbs Cognitive impairment Impaired vibratory sensation Spastic gait Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
25
|
n.a.
|
Babinski sign
Impaired vibratory sensation -Lower limb amyotrophy Spasticity, lower limb Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
35
|
42
|
n.a.
|
Mri brain other abnormalities
Hyperreflexia in upper limbs Impaired vibratory sensation Babinski sign Nerve conduction studies other abnormalities Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
16
|
n.a.
|
Impaired vibratory sensation
Hyperreflexia in upper limbs Cerebellar atrophy Spastic gait Babinski sign Mri brain other abnormalities Spasticity, lower limb Cognitive impairment Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
35
|
n.a.
|
Impaired vibratory sensation
Nerve conduction studies other abnormalities Hyperreflexia in upper limbs Mri brain other abnormalities Deafness early onset less 40 years Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
50
|
68
|
n.a.
|
Spastic gait
Babinski sign Mri brain other abnormalities Hyperreflexia in upper limbs Peripheral neuropathy on nerve conduction studies Nerve conduction studies other abnormalities Impaired vibratory sensation Show more (+4) |
n.a.
|