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