Orlacchio, 2005: Overview of all reported HSP-SPAST patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
25
|
46
|
n.a.
|
Babinski sign
Central motor conduction time abnormality Impaired vibratory sensation Spasticity, lower limb Pes cavus Spastic gait Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
23
|
41
|
n.a.
|
Babinski sign
Impaired vibratory sensation Pes cavus Spastic gait Abnormality of the bladder Central motor conduction time abnormality Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
49
|
75
|
n.a.
|
Mri brain other abnormalities
Babinski sign Abnormality of the bladder Peripheral neuropathy on nerve conduction studies Spasticity, lower limb Central motor conduction time abnormality Cognitive impairment Wheelchair Spastic gait Nerve conduction studies other abnormalities Inability to walk Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
32
|
60
|
n.a.
|
Impaired vibratory sensation
Spasticity, lower limb Central motor conduction time abnormality Pes cavus Spastic gait Babinski sign Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
41
|
66
|
n.a.
|
Spastic gait
Peripheral neuropathy on nerve conduction studies Walking aids Cognitive impairment Abnormality of the bladder Spasticity, lower limb Babinski sign Central motor conduction time abnormality Nerve conduction studies other abnormalities Mri brain other abnormalities Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
49
|
n.a.
|
Pes cavus
Babinski sign Impaired vibratory sensation Abnormality of the bladder Central motor conduction time abnormality Spastic gait Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
46
|
n.a.
|
Pes cavus
Central motor conduction time abnormality Spasticity, lower limb Babinski sign Spastic gait Impaired vibratory sensation Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
52
|
59
|
n.a.
|
Nerve conduction studies other abnormalities
Central motor conduction time abnormality Spastic gait Mri brain other abnormalities Peripheral neuropathy on nerve conduction studies Babinski sign Abnormality of the bladder Walking aids Spasticity, lower limb Cognitive impairment Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
57
|
n.a.
|
Cognitive impairment
Abnormality of the bladder Babinski sign Central motor conduction time abnormality Spasticity, lower limb Spastic gait Mri brain other abnormalities Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Walking aids Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
72
|
n.a.
|
Peripheral neuropathy on nerve conduction studies
Walking aids Mri brain other abnormalities Abnormality of the bladder Central motor conduction time abnormality Spastic gait Babinski sign Nerve conduction studies other abnormalities Cognitive impairment Spasticity, lower limb Show more (+7) |
n.a.
|