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