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