Khan, 2014: Overview of all reported HSP-ATL1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
O
|
PAK
|
1
|
12
|
n.a.
|
Pes cavus
Spastic gait Tip-toe gait Spasticity, lower limb -Pure or uncomplicated Lower limb muscle weakness Impaired vibratory sensation Babinski sign Show more (+5) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
32
|
n.a.
|
-Pure or uncomplicated
Impaired vibratory sensation |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
3
|
n.a.
|
Pes cavus
Babinski sign -Pure or uncomplicated Spastic gait Lower limb muscle weakness Tip-toe gait Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
70
|
n.a.
|
-Pure or uncomplicated
Babinski sign |
n.a.
|
|
Yes
|
♂
|
O
|
PAK
|
1
|
31
|
n.a.
|
Abnormality of the bladder
Spastic gait Babinski sign Abnormality of the skeletal system Pes cavus Impaired pain sensation -Pure or uncomplicated Tip-toe gait Impaired vibratory sensation Lower limb muscle weakness Spasticity, lower limb Mri spine abnormalities Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
43
|
n.a.
|
Mri spine abnormalities
Walking aids Tip-toe gait Impaired vibratory sensation Spastic gait Abnormality of the bladder Babinski sign -Pure or uncomplicated Abnormality of the skeletal system Lower limb muscle weakness Pes cavus Spasticity, lower limb Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
10
|
n.a.
|
-Pure or uncomplicated
Spastic gait Impaired vibratory sensation Pes cavus Babinski sign Lower limb muscle weakness Spasticity, lower limb Tip-toe gait Show more (+5) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
66
|
n.a.
|
-Pure or uncomplicated
Babinski sign |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
45
|
n.a.
|
Spasticity, lower limb
Babinski sign -Pure or uncomplicated Abnormality of the bladder Tip-toe gait Pes cavus Impaired vibratory sensation Spastic gait Abnormality of the skeletal system Walking aids Lower limb muscle weakness Show more (+8) |
n.a.
|