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