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