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