Bertelli, 2006: Overview of all reported HSP-SPAST patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
30
|
66
|
n.a.
|
Mri brain other abnormalities
Spastic gait Upper limb amyotrophy Lower limb muscle weakness Central motor conduction time abnormality Pes cavus -Pure or uncomplicated Spasticity, lower limb Babinski sign Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
20
|
40
|
n.a.
|
Spastic gait
Global developmental delay Lower limb muscle weakness Cognitive impairment Mri brain other abnormalities Peripheral neuropathy on nerve conduction studies Seizures Spasticity, lower limb Central motor conduction time abnormality Nerve conduction studies other abnormalities Abnormality of the cerebral white matter Babinski sign Show more (+9) |
n.a.
|