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