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.
|
Spasticity, lower limb
Lower limb muscle weakness Babinski sign Tip-toe gait -Pure or uncomplicated Impaired vibratory sensation Pes cavus Spastic gait Show more (+5) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
32
|
n.a.
|
Impaired vibratory sensation
-Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
3
|
n.a.
|
Babinski sign
Lower limb muscle weakness -Pure or uncomplicated Spasticity, lower limb Spastic gait Tip-toe gait Pes cavus 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.
|
Impaired vibratory sensation
Babinski sign Abnormality of the bladder -Pure or uncomplicated Spasticity, lower limb Lower limb muscle weakness Abnormality of the skeletal system Mri spine abnormalities Impaired pain sensation Tip-toe gait Pes cavus Spastic gait Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
43
|
n.a.
|
Spasticity, lower limb
Pes cavus Mri spine abnormalities Abnormality of the bladder Lower limb muscle weakness Impaired vibratory sensation Spastic gait Walking aids Tip-toe gait Babinski sign -Pure or uncomplicated Abnormality of the skeletal system Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
10
|
n.a.
|
Pes cavus
Lower limb muscle weakness Spastic gait Tip-toe gait Spasticity, lower limb Babinski sign -Pure or uncomplicated Impaired vibratory sensation 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.
|
Babinski sign
Tip-toe gait Abnormality of the bladder Spastic gait Spasticity, lower limb Walking aids Pes cavus -Pure or uncomplicated Impaired vibratory sensation Lower limb muscle weakness Abnormality of the skeletal system Show more (+8) |
n.a.
|