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