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