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
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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
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n.a.