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