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