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