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.
|
-Pure or uncomplicated
Lower limb muscle weakness Tip-toe gait Spastic gait Pes cavus Impaired vibratory sensation Babinski sign Spasticity, lower limb 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.
|
Spastic gait
Lower limb muscle weakness Tip-toe gait Pes cavus -Pure or uncomplicated Babinski sign 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.
|
Spasticity, lower limb
Impaired vibratory sensation Mri spine abnormalities Impaired pain sensation -Pure or uncomplicated Tip-toe gait Babinski sign Spastic gait Pes cavus Lower limb muscle weakness Abnormality of the skeletal system Abnormality of the bladder Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
43
|
n.a.
|
Abnormality of the skeletal system
Pes cavus Abnormality of the bladder -Pure or uncomplicated Spastic gait Impaired vibratory sensation Babinski sign Spasticity, lower limb Mri spine abnormalities Tip-toe gait Walking aids Lower limb muscle weakness Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
10
|
n.a.
|
Pes cavus
Spasticity, lower limb Babinski sign Impaired vibratory sensation Lower limb muscle weakness Tip-toe gait Spastic gait -Pure or uncomplicated Show more (+5) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
66
|
n.a.
|
Babinski sign
-Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
45
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness Walking aids Abnormality of the skeletal system Pes cavus Babinski sign Tip-toe gait Spastic gait -Pure or uncomplicated Impaired vibratory sensation Abnormality of the bladder Show more (+8) |
n.a.
|