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