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.
|
Pes cavus
Central motor conduction time abnormality Upper limb amyotrophy Lower limb muscle weakness Babinski sign -Pure or uncomplicated Mri brain other abnormalities Spasticity, lower limb Spastic gait Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
20
|
40
|
n.a.
|
Seizures
Spasticity, lower limb Lower limb muscle weakness Central motor conduction time abnormality Global developmental delay Mri brain other abnormalities Babinski sign Cognitive impairment Nerve conduction studies other abnormalities Abnormality of the cerebral white matter Peripheral neuropathy on nerve conduction studies Spastic gait Show more (+9) |
n.a.
|