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