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