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.
|
Spastic gait
Spasticity, lower limb Impaired vibratory sensation Babinski sign Lower limb muscle weakness Pes cavus -Pure or uncomplicated Tip-toe 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
Tip-toe gait Lower limb muscle weakness -Pure or uncomplicated Spasticity, lower limb Spastic gait Pes cavus Show more (+4) |
n.a.
|
|
No
|
♀
|
O
|
PAK
|
n.a.
|
70
|
n.a.
|
Babinski sign
-Pure or uncomplicated |
n.a.
|
|
Yes
|
♂
|
O
|
PAK
|
1
|
31
|
n.a.
|
Impaired pain sensation
Impaired vibratory sensation -Pure or uncomplicated Mri spine abnormalities Abnormality of the skeletal system Pes cavus Tip-toe gait Spastic gait Abnormality of the bladder Spasticity, lower limb Babinski sign Lower limb muscle weakness Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
43
|
n.a.
|
Lower limb muscle weakness
Impaired vibratory sensation Mri spine abnormalities Walking aids Tip-toe gait Abnormality of the bladder Spasticity, lower limb Spastic gait Pes cavus -Pure or uncomplicated Abnormality of the skeletal system Babinski sign Show more (+9) |
n.a.
|
|
No
|
♂
|
O
|
PAK
|
1
|
10
|
n.a.
|
Tip-toe gait
Impaired vibratory sensation -Pure or uncomplicated Pes cavus Spastic gait Lower limb muscle weakness Babinski sign Spasticity, lower limb 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.
|
Impaired vibratory sensation
Spastic gait Lower limb muscle weakness Spasticity, lower limb Pes cavus Tip-toe gait Walking aids Babinski sign Abnormality of the bladder -Pure or uncomplicated Abnormality of the skeletal system Show more (+8) |
n.a.
|