Leonardis, 2012: Overview of all reported HSP-ATL1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
SVN
|
28
|
43
|
n.a.
|
Impaired temperature sensation
Impaired vibratory sensation -Lower limb amyotrophy Impaired proprioception Impaired pain sensation Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
23
|
24
|
n.a.
|
Spasticity, lower limb
Impaired proprioception Hyperreflexia in upper limbs Impaired temperature sensation Impaired pain sensation -Lower limb amyotrophy Pes cavus Impaired vibratory sensation Spastic gait Show more (+6) |
Spastic gait
|
|
No
|
♀
|
C
|
SVN
|
31
|
39
|
n.a.
|
Hyperreflexia in upper limbs
-Lower limb amyotrophy Impaired vibratory sensation Lower limb muscle weakness Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
1
|
18
|
n.a.
|
Impaired vibratory sensation
Hyperreflexia in upper limbs Impaired proprioception Spastic gait Spasticity, lower limb -Lower limb amyotrophy Show more (+3) |
Spastic gait
|
|
No
|
♀
|
C
|
SVN
|
27
|
65
|
n.a.
|
Impaired pain sensation
Impaired proprioception -Lower limb amyotrophy Impaired temperature sensation Impaired vibratory sensation Lower limb muscle weakness Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
27
|
71
|
n.a.
|
Upper limb amyotrophy
Impaired temperature sensation Impaired pain sensation Lower limb muscle weakness Muscle weakness, upper limb Spasticity, lower limb -Lower limb amyotrophy Impaired vibratory sensation Impaired proprioception Spastic gait Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
n.a.
|
20
|
n.a.
|
Spasticity, lower limb
Impaired proprioception |
n.a.
|
|
Yes
|
♂
|
C
|
SVN
|
25
|
70
|
n.a.
|
Lower limb muscle weakness
Impaired temperature sensation -Lower limb amyotrophy Impaired proprioception Impaired pain sensation Impaired vibratory sensation Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
SVN
|
37
|
38
|
n.a.
|
Impaired proprioception
Impaired vibratory sensation -Lower limb amyotrophy |
n.a.
|
|
No
|
♀
|
C
|
SVN
|
20
|
36
|
n.a.
|
-Lower limb amyotrophy
Impaired temperature sensation Impaired vibratory sensation Spastic gait Spasticity, lower limb Impaired proprioception Impaired pain sensation Hyperreflexia in upper limbs Show more (+5) |
Spastic gait
|