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