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