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