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 pain sensation
-Lower limb amyotrophy Impaired proprioception Impaired vibratory sensation Impaired temperature sensation Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
23
|
24
|
n.a.
|
Spastic gait
-Lower limb amyotrophy Hyperreflexia in upper limbs Impaired temperature sensation Impaired pain sensation Impaired proprioception Impaired vibratory sensation Spasticity, lower limb Pes cavus Show more (+6) |
Spastic gait
|
|
No
|
♀
|
C
|
SVN
|
31
|
39
|
n.a.
|
Lower limb muscle weakness
Impaired vibratory sensation Hyperreflexia in upper limbs -Lower limb amyotrophy Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
1
|
18
|
n.a.
|
Impaired proprioception
Spastic gait Hyperreflexia in upper limbs -Lower limb amyotrophy Impaired vibratory sensation Spasticity, lower limb Show more (+3) |
Spastic gait
|
|
No
|
♀
|
C
|
SVN
|
27
|
65
|
n.a.
|
Impaired proprioception
Impaired vibratory sensation Impaired temperature sensation Lower limb muscle weakness Impaired pain sensation -Lower limb amyotrophy Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
SVN
|
27
|
71
|
n.a.
|
Lower limb muscle weakness
Spasticity, lower limb Impaired temperature sensation Impaired pain sensation -Lower limb amyotrophy Impaired vibratory sensation Upper limb amyotrophy Spastic gait Impaired proprioception Muscle weakness, upper limb 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.
|
Impaired vibratory sensation
Lower limb muscle weakness Impaired proprioception -Lower limb amyotrophy Impaired temperature sensation Impaired pain sensation Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
SVN
|
37
|
38
|
n.a.
|
Impaired vibratory sensation
Impaired proprioception -Lower limb amyotrophy |
n.a.
|
|
No
|
♀
|
C
|
SVN
|
20
|
36
|
n.a.
|
Impaired pain sensation
-Lower limb amyotrophy Spasticity, lower limb Impaired vibratory sensation Hyperreflexia in upper limbs Impaired temperature sensation Impaired proprioception Spastic gait Show more (+5) |
Spastic gait
|