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