Orlacchio, 2004: Overview of all reported HSP-SPAST patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
C
|
ITA
|
39
|
55
|
n.a.
|
Lower limb muscle weakness
Spastic gait Pes cavus Spasticity, lower limb Mri brain other abnormalities Cognitive impairment Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
45
|
75
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness Cognitive impairment Mri brain other abnormalities Pes cavus Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
18
|
22
|
n.a.
|
Pes cavus
Inability to walk Cognitive impairment Spasticity, lower limb Wheelchair Mri brain other abnormalities Spastic gait Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
30
|
38
|
n.a.
|
Lower limb muscle weakness
Spastic gait Spasticity, lower limb Hyperreflexia in upper limbs Cognitive impairment Mri brain other abnormalities Walking aids Pes cavus Spasticity, upper limb Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
38
|
39
|
n.a.
|
Mri brain other abnormalities
Lower limb muscle weakness Pes cavus Spasticity, lower limb Spastic gait Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
42
|
58
|
n.a.
|
Mri brain other abnormalities
Spasticity, lower limb Pes cavus |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
33
|
36
|
n.a.
|
Pes cavus
Seizures Lower limb muscle weakness Spasticity, lower limb Spastic gait Mri brain other abnormalities Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
44
|
76
|
n.a.
|
Spastic gait
Cognitive impairment Pes cavus Spasticity, lower limb Mri brain other abnormalities Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
21
|
23
|
n.a.
|
Wheelchair
Inability to walk Mri brain other abnormalities Lower limb muscle weakness Spastic gait Spasticity, lower limb Abnormality of the bladder Pes cavus Show more (+5) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
20
|
23
|
n.a.
|
Lower limb muscle weakness
Inability to walk Pes cavus Deafness early onset less 40 years Mri brain other abnormalities Spasticity, lower limb Spastic gait Wheelchair Show more (+5) |
n.a.
|