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