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.
|
Cognitive impairment
Pes cavus Lower limb muscle weakness Spastic gait Mri brain other abnormalities Spasticity, lower limb Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
45
|
75
|
n.a.
|
Lower limb muscle weakness
Pes cavus Spasticity, lower limb Cognitive impairment Mri brain other abnormalities Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
18
|
22
|
n.a.
|
Wheelchair
Spasticity, lower limb Inability to walk Spastic gait Mri brain other abnormalities Pes cavus Cognitive impairment Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
30
|
38
|
n.a.
|
Walking aids
Mri brain other abnormalities Spastic gait Hyperreflexia in upper limbs Cognitive impairment Spasticity, upper limb Lower limb muscle weakness Spasticity, lower limb Pes cavus Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
38
|
39
|
n.a.
|
Lower limb muscle weakness
Mri brain other abnormalities Spasticity, lower limb Spastic gait Pes cavus Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
42
|
58
|
n.a.
|
Spasticity, lower limb
Pes cavus Mri brain other abnormalities |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
33
|
36
|
n.a.
|
Pes cavus
Lower limb muscle weakness Spastic gait Spasticity, lower limb Seizures Mri brain other abnormalities Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
44
|
76
|
n.a.
|
Spasticity, lower limb
Mri brain other abnormalities Cognitive impairment Pes cavus Spastic gait Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
21
|
23
|
n.a.
|
Mri brain other abnormalities
Spastic gait Lower limb muscle weakness Abnormality of the bladder Inability to walk Spasticity, lower limb Pes cavus Wheelchair Show more (+5) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
20
|
23
|
n.a.
|
Wheelchair
Lower limb muscle weakness Spastic gait Mri brain other abnormalities Spasticity, lower limb Inability to walk Pes cavus Deafness early onset less 40 years Show more (+5) |
n.a.
|