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