Scuderi, 2009: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
88
n.a.
Wheelchair
Hyperreflexia in upper limbs
Spasticity, lower limb
Inability to walk
Impaired vibratory sensation
Spastic gait
Babinski sign
Show more (+4)
n.a.
No
n.a.
n.a.
66
68
n.a.
Hyperreflexia in upper limbs
Peripheral neuropathy on nerve conduction studies
Mri brain other abnormalities
Babinski sign
Cognitive impairment
Mri spine abnormalities
Cerebellar atrophy
Impaired vibratory sensation
Spastic gait
Show more (+6)
n.a.
No
n.a.
n.a.
1
3
n.a.
Mri brain other abnormalities
Cognitive impairment
Spasticity, lower limb
Spastic gait
Abnormality of the bladder
Hyperreflexia in upper limbs
Impaired vibratory sensation
Show more (+4)
n.a.
No
n.a.
n.a.
30
45
n.a.
Babinski sign
Mri brain other abnormalities
Hyperreflexia in upper limbs
Nerve conduction studies other abnormalities
Spasticity, lower limb
Abnormality of the bladder
Impaired vibratory sensation
Spastic gait
Show more (+5)
n.a.
No
n.a.
n.a.
1
9
n.a.
Impaired vibratory sensation
Cognitive impairment
Spasticity, lower limb
Spastic gait
Hyperreflexia in upper limbs
Babinski sign
Show more (+3)
n.a.
No
n.a.
n.a.
n.a.
25
n.a.
-Lower limb amyotrophy
Spasticity, lower limb
Impaired vibratory sensation
Babinski sign
Hyperreflexia in upper limbs
Show more (+2)
n.a.
No
n.a.
n.a.
35
42
n.a.
Nerve conduction studies other abnormalities
Impaired vibratory sensation
Mri brain other abnormalities
Babinski sign
Hyperreflexia in upper limbs
Show more (+2)
n.a.
Yes
n.a.
n.a.
1
16
n.a.
Spasticity, lower limb
Spastic gait
Mri brain other abnormalities
Hyperreflexia in upper limbs
Cognitive impairment
Cerebellar atrophy
Babinski sign
Impaired vibratory sensation
Show more (+5)
n.a.
p.Arg581*: het
No
n.a.
n.a.
n.a.
35
n.a.
Impaired vibratory sensation
Hyperreflexia in upper limbs
Nerve conduction studies other abnormalities
Deafness early onset less 40 years
Mri brain other abnormalities
Show more (+2)
n.a.
No
n.a.
n.a.
50
68
n.a.
Nerve conduction studies other abnormalities
Babinski sign
Hyperreflexia in upper limbs
Mri brain other abnormalities
Spastic gait
Peripheral neuropathy on nerve conduction studies
Impaired vibratory sensation
Show more (+4)
n.a.