Orlacchio, 2005: 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
25
46
n.a.
Spasticity, lower limb
Pes cavus
Babinski sign
Spastic gait
Impaired vibratory sensation
Central motor conduction time abnormality
Show more (+3)
n.a.
No
♀
C
ITA
23
41
n.a.
Impaired vibratory sensation
Pes cavus
Central motor conduction time abnormality
Babinski sign
Abnormality of the bladder
Spasticity, lower limb
Spastic gait
Show more (+4)
n.a.
No
♂
C
ITA
49
75
n.a.
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb
Mri brain other abnormalities
Nerve conduction studies other abnormalities
Babinski sign
Abnormality of the bladder
Spastic gait
Central motor conduction time abnormality
Wheelchair
Inability to walk
Cognitive impairment
Show more (+8)
n.a.
No
♀
C
ITA
32
60
n.a.
Spastic gait
Spasticity, lower limb
Central motor conduction time abnormality
Babinski sign
Pes cavus
Impaired vibratory sensation
Show more (+3)
n.a.
No
♂
C
ITA
41
66
n.a.
Cognitive impairment
Nerve conduction studies other abnormalities
Mri brain other abnormalities
Walking aids
Spasticity, lower limb
Abnormality of the bladder
Central motor conduction time abnormality
Peripheral neuropathy on nerve conduction studies
Spastic gait
Babinski sign
Show more (+7)
n.a.
No
♀
C
ITA
26
49
n.a.
Spasticity, lower limb
Babinski sign
Impaired vibratory sensation
Pes cavus
Spastic gait
Abnormality of the bladder
Central motor conduction time abnormality
Show more (+4)
n.a.
No
♀
C
ITA
26
46
n.a.
Impaired vibratory sensation
Spastic gait
Pes cavus
Spasticity, lower limb
Central motor conduction time abnormality
Babinski sign
Show more (+3)
n.a.
No
♂
C
ITA
52
59
n.a.
Cognitive impairment
Walking aids
Central motor conduction time abnormality
Mri brain other abnormalities
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb
Babinski sign
Abnormality of the bladder
Nerve conduction studies other abnormalities
Spastic gait
Show more (+7)
n.a.
No
♂
C
ITA
48
57
n.a.
Nerve conduction studies other abnormalities
Central motor conduction time abnormality
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies
Babinski sign
Spastic gait
Walking aids
Abnormality of the bladder
Cognitive impairment
Mri brain other abnormalities
Show more (+7)
n.a.
No
♂
C
ITA
48
72
n.a.
Nerve conduction studies other abnormalities
Spasticity, lower limb
Babinski sign
Abnormality of the bladder
Spastic gait
Walking aids
Mri brain other abnormalities
Cognitive impairment
Peripheral neuropathy on nerve conduction studies
Central motor conduction time abnormality
Show more (+7)
n.a.