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