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