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