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