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