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