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