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