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