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