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.
|
Impaired vibratory sensation
Spasticity, lower limb Babinski sign Pes cavus Spastic gait Central motor conduction time abnormality Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
23
|
41
|
n.a.
|
Central motor conduction time abnormality
Babinski sign Spastic gait Spasticity, lower limb Abnormality of the bladder Impaired vibratory sensation Pes cavus Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
49
|
75
|
n.a.
|
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb Babinski sign Abnormality of the bladder Spastic gait Mri brain other abnormalities Nerve conduction studies other abnormalities Cognitive impairment Central motor conduction time abnormality Inability to walk Wheelchair Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
32
|
60
|
n.a.
|
Spastic gait
Spasticity, lower limb Pes cavus Babinski sign Central motor conduction time abnormality Impaired vibratory sensation Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
41
|
66
|
n.a.
|
Cognitive impairment
Spasticity, lower limb Walking aids Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Abnormality of the bladder Babinski sign Mri brain other abnormalities Central motor conduction time abnormality Spastic gait Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
49
|
n.a.
|
Central motor conduction time abnormality
Babinski sign Spastic gait Impaired vibratory sensation Spasticity, lower limb Pes cavus Abnormality of the bladder Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
46
|
n.a.
|
Central motor conduction time abnormality
Babinski sign Pes cavus Impaired vibratory sensation Spastic gait Spasticity, lower limb Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
52
|
59
|
n.a.
|
Babinski sign
Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Walking aids Cognitive impairment Nerve conduction studies other abnormalities Spasticity, lower limb Abnormality of the bladder Mri brain other abnormalities Spastic gait Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
57
|
n.a.
|
Spastic gait
Mri brain other abnormalities Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Walking aids Abnormality of the bladder Cognitive impairment Nerve conduction studies other abnormalities Spasticity, lower limb Babinski sign Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
72
|
n.a.
|
Walking aids
Mri brain other abnormalities Nerve conduction studies other abnormalities Central motor conduction time abnormality Babinski sign Cognitive impairment Spastic gait Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Abnormality of the bladder Show more (+7) |
n.a.
|