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
Hyperreflexia in upper limbs Spasticity, lower limb Inability to walk Impaired vibratory sensation Spastic gait Babinski sign Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
66
|
68
|
n.a.
|
Hyperreflexia in upper limbs
Peripheral neuropathy on nerve conduction studies Mri brain other abnormalities Babinski sign Cognitive impairment Mri spine abnormalities Cerebellar atrophy Impaired vibratory sensation Spastic gait Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
3
|
n.a.
|
Mri brain other abnormalities
Cognitive impairment Spasticity, lower limb Spastic gait Abnormality of the bladder Hyperreflexia in upper limbs Impaired vibratory sensation Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
30
|
45
|
n.a.
|
Babinski sign
Mri brain other abnormalities Hyperreflexia in upper limbs Nerve conduction studies other abnormalities Spasticity, lower limb Abnormality of the bladder Impaired vibratory sensation Spastic gait Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
1
|
9
|
n.a.
|
Impaired vibratory sensation
Cognitive impairment Spasticity, lower limb Spastic gait Hyperreflexia in upper limbs Babinski sign Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
25
|
n.a.
|
-Lower limb amyotrophy
Spasticity, lower limb Impaired vibratory sensation Babinski sign Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
35
|
42
|
n.a.
|
Nerve conduction studies other abnormalities
Impaired vibratory sensation Mri brain other abnormalities Babinski sign Hyperreflexia in upper limbs Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
16
|
n.a.
|
Spasticity, lower limb
Spastic gait Mri brain other abnormalities Hyperreflexia in upper limbs Cognitive impairment Cerebellar atrophy Babinski sign Impaired vibratory sensation Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
35
|
n.a.
|
Impaired vibratory sensation
Hyperreflexia in upper limbs Nerve conduction studies other abnormalities Deafness early onset less 40 years Mri brain other abnormalities Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
50
|
68
|
n.a.
|
Nerve conduction studies other abnormalities
Babinski sign Hyperreflexia in upper limbs Mri brain other abnormalities Spastic gait Peripheral neuropathy on nerve conduction studies Impaired vibratory sensation Show more (+4) |
n.a.
|