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