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