Scuderi, 2009: Overview of all reported HSP-SPAST patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
88
|
n.a.
|
Wheelchair
Inability to walk Spasticity, lower limb Impaired vibratory sensation Hyperreflexia in upper limbs Babinski sign Spastic gait Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
66
|
68
|
n.a.
|
Cognitive impairment
Mri brain other abnormalities Hyperreflexia in upper limbs Spastic gait Peripheral neuropathy on nerve conduction studies Cerebellar atrophy Babinski sign Mri spine abnormalities Impaired vibratory sensation Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
3
|
n.a.
|
Spasticity, lower limb
Spastic gait Impaired vibratory sensation Cognitive impairment Abnormality of the bladder Hyperreflexia in upper limbs Mri brain other abnormalities Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
30
|
45
|
n.a.
|
Nerve conduction studies other abnormalities
Spasticity, lower limb Abnormality of the bladder Spastic gait Impaired vibratory sensation Mri brain other abnormalities Hyperreflexia in upper limbs Babinski sign Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
1
|
9
|
n.a.
|
Babinski sign
Impaired vibratory sensation Cognitive impairment Spastic gait Hyperreflexia in upper limbs Spasticity, lower limb Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
25
|
n.a.
|
Impaired vibratory sensation
Spasticity, lower limb -Lower limb amyotrophy Hyperreflexia in upper limbs Babinski sign Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
35
|
42
|
n.a.
|
Mri brain other abnormalities
Nerve conduction studies other abnormalities Impaired vibratory sensation Babinski sign Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
16
|
n.a.
|
Spasticity, lower limb
Mri brain other abnormalities Cognitive impairment Cerebellar atrophy Babinski sign Spastic gait Hyperreflexia in upper limbs Impaired vibratory sensation Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
35
|
n.a.
|
Mri brain other abnormalities
Impaired vibratory sensation Hyperreflexia in upper limbs Nerve conduction studies other abnormalities Deafness early onset less 40 years Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
50
|
68
|
n.a.
|
Impaired vibratory sensation
Spastic gait Babinski sign Mri brain other abnormalities Hyperreflexia in upper limbs Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Show more (+4) |
n.a.
|