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