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